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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:
CA2544071021
Gene: ARX
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25015516_25015518del , CM000685.2:g.25015516_25015518del
GRCh38
NC_000023.10:g.25033633_25033635del , CM000685.1:g.25033633_25033635del
GRCh37
NC_000023.9:g.24943554_24943556del
NCBI36
NG_008281.1:g.5431_5433del
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.196+24_196+26del
MANE Select
ENSP00000368332.4:n.196+24_196+26del
ENST00000379044.4:c.196+24_196+26del
ENSP00000368332.4:n.196+24_196+26del
NM_139058.2:c.196+24_196+26del
NP_620689.1:n.196+24_196+26del
NM_139058.3:c.196+24_196+26del
MANE Select
NP_620689.1:n.196+24_196+26del
Search 100 bp 5'
Search 100 bp 3'