Canonical Allele Identifier: PA097176
Gene: GJA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 435325
ClinVar RCV Id: RCV000502204

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000156.1:p.Val216Leu
CA365559479
NM_000165.5:c.646G>C
CA365559480
NM_000165.5:c.646G>T