Canonical Allele Identifier: PA2825077580
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637623
ClinVar RCV Id: RCV000789885
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Val140Glu
CA413502324
NM_000166.6:c.419T>A