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: PA2825077940

Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 234844

ClinVar RCV Id: RCV000214039 RCV000654849

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000157.1:p.Val181Glu	CA10577659 NM_000166.6:c.542T>A