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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:
CA327733024
Gene: ARX
HGNC
NCBI
Linked Data
dbSNP Id:
rs755049856
MyVariant Identifiers:
chrX:g.25030870del (hg19)
chrX:g.25012753del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.25012753del , CM000685.2:g.25012753del
GRCh38
NC_000023.10:g.25030870del , CM000685.1:g.25030870del
GRCh37
NC_000023.9:g.24940791del
NCBI36
NG_008281.1:g.8196del
Transcript Alleles
HGVS
Amino-acid change
ENST00000379044.5:c.1073+169del
MANE Select
ENSP00000368332.4:n.1073+169del
ENST00000379044.4:c.1073+169del
ENSP00000368332.4:n.1073+169del
NM_139058.2:c.1073+169del
NP_620689.1:n.1073+169del
NM_139058.3:c.1073+169del
MANE Select
NP_620689.1:n.1073+169del
Search 100 bp 5'
Search 100 bp 3'