ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139721920
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
927656
ClinVar RCV Id:
RCV001191053
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004563.2:p.Ala824Thr
CA384357551
NM_004572.4:c.2470G>A