ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA272939
Gene: PKP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005242.2:p.Val543Ile
CA010644
NM_001005242.3:c.1627G>A