Canonical Allele Identifier: PA267509
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 97063
ClinVar RCV Id: RCV000083303
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Pro58Ser
CA267507
NM_001097642.3:c.172C>T