ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA135487
Gene: PKP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000038209
RCV000148730
RCV000190558
RCV000244829
RCV000458904
RCV000776101
RCV000858416
RCV003318347
RCV003934921
ClinVar Variation:
45068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005242.2:p.Arg767Ser
CA010668
NM_001005242.3:c.2299C>A