Canonical Allele Identifier: PA338638
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216292
ClinVar RCV Id: RCV000199414 RCV000235965
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Val38Gly
CA338636
NM_000166.6:c.113T>G