Canonical Allele Identifier: PA645435299
Gene: PKP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 294805
ClinVar RCV Id: RCV000387306

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005337.1:p.Trp126Cys
CA10609421
NM_001005337.3:c.378G>C
CA344172839
NM_001005337.3:c.378G>T