ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA135434
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
45009
ClinVar RCV Id:
RCV000038148
RCV000640003
RCV000766569
RCV004018864
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004563.2:p.Ile377Thr
CA010810
NM_004572.4:c.1130T>C