ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211180
Gene: PKP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000038195
RCV000468300
RCV000618784
RCV000766576
RCV001171161
ClinVar Variation:
45055
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005242.2:p.Ser644Pro
CA010659
NM_001005242.3:c.1930T>C