ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825260295
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1163350
ClinVar RCV Id:
RCV001508329
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005242.2:p.Leu567Phe
CA384363518
NM_001005242.3:c.1699C>T