Canonical Allele Identifier: PA097241
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 188136
ClinVar RCV Id: RCV000168011 RCV000789271
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Ala39Val
CA334139
NM_000166.6:c.116C>T