ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825260837
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000685744
RCV001191344
RCV004004234
ClinVar Variation:
566033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005242.2:p.Leu835Pro
CA036398
NM_001005242.3:c.2504T>C