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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2420208958
Gene: ARX
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25012752_25012753delinsGA , CM000685.2:g.25012752_25012753delinsGA
GRCh38
NC_000023.10:g.25030869_25030870delinsGA , CM000685.1:g.25030869_25030870delinsGA
GRCh37
NC_000023.9:g.24940790_24940791delinsGA
NCBI36
NG_008281.1:g.8196_8197delinsTC
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.1073+169_1073+170delinsTC
MANE Select
ENSP00000368332.4:n.1073+169_1073+170delinsTC
ENST00000379044.4:c.1073+169_1073+170delinsTC
ENSP00000368332.4:n.1073+169_1073+170delinsTC
NM_139058.2:c.1073+169_1073+170delinsTC
NP_620689.1:n.1073+169_1073+170delinsTC
NM_139058.3:c.1073+169_1073+170delinsTC
MANE Select
NP_620689.1:n.1073+169_1073+170delinsTC
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