Canonical Allele Identifier: PA2825260145
Gene: PKP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2188535
ClinVar RCV Id: RCV002636563
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005242.2:p.Met475Leu
CA384367986
NM_001005242.3:c.1423A>C
CA384367989
NM_001005242.3:c.1423A>T