ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580304570
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1786689
ClinVar RCV Id:
RCV002432409
RCV004007400
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004563.2:p.Pro717Thr
CA384360079
NM_004572.4:c.2149C>A