ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825260637
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
518740
ClinVar RCV Id:
RCV000620594
RCV001186059
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005242.2:p.Ser750Ala
CA384357813
NM_001005242.3:c.2248T>G