Allele Registry

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.

Canonical Allele Identifier: PA098498

Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637140

ClinVar RCV Id: RCV000789186

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Ser128Pro	CA413502103 NM_000166.6:c.382T>C