ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825259131
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
464428
ClinVar RCV Id:
RCV000546927
RCV001188387
RCV003159811
RCV003999146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005242.2:p.Val87Leu
CA036221
NM_001005242.3:c.259G>C