ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825260142
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1172217
ClinVar RCV Id:
RCV001525896
RCV004008883
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005242.2:p.Leu474Ile
CA384367997
NM_001005242.3:c.1420C>A