ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825259223
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
464429
ClinVar RCV Id:
RCV000536450
RCV001528525
RCV003532168
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005242.2:p.Arg122Cys
CA037071
NM_001005242.3:c.364C>T