ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825260450
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
919450
ClinVar RCV Id:
RCV001177657
RCV001241007
RCV002223273
RCV002418611
RCV004006397
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005242.2:p.Ser649Gly
CA032586
NM_001005242.3:c.1945A>G