Canonical Allele Identifier: PA645435310
Gene: PKP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 294812
ClinVar RCV Id: RCV000281650
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005337.1:p.Phe274Leu
CA10609374
NM_001005337.3:c.822C>G
CA344177518
NM_001005337.3:c.820T>C
CA344177529
NM_001005337.3:c.822C>A