Canonical Allele Identifier: PA2825260031
Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3074826
ClinVar RCV Id: RCV004014360

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005242.2:p.Val423Leu
CA384370311
NM_001005242.3:c.1267G>C
CA384370312
NM_001005242.3:c.1267G>T