Canonical Allele Identifier: PA099025
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 245946
ClinVar RCV Id: RCV000235629 RCV000789918 RCV000793260 RCV004020923
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Val38Met
CA10584634
NM_000166.6:c.112G>A