ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825260531
Gene: PKP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000547405
RCV000853124
RCV001180822
ClinVar Variation:
464422
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005242.2:p.Thr690Ala
CA235222874
NM_001005242.3:c.2068A>G