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: PA658831332

Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 551991

ClinVar RCV Id: RCV000667174

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Phe106Leu	CA6904282 NM_004004.6:c.318C>A CA387461401 NM_004004.6:c.318C>G CA387461406 NM_004004.6:c.316T>C