ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825260207
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
45037
ClinVar RCV Id:
RCV000038176
RCV000797246
RCV001183721
RCV001770059
RCV003362674
RCV003996371
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005242.2:p.Ile510Val
CA011277
NM_001005242.3:c.1528A>G