Canonical Allele Identifier: PA098402
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 477599
ClinVar RCV Id: RCV000559484 RCV000789937
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Pro172Leu
CA413502914
NM_000166.6:c.515C>T