ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825260129
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3224316
ClinVar RCV Id:
RCV004519042
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005242.2:p.Asn468Asp
CA384368089
NM_001005242.3:c.1402A>G