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: PA2825077413

Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2842394

ClinVar RCV Id: RCV003742065

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Leu106Val	CA413501900 NM_000166.6:c.316C>G