ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825260128
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3073698
ClinVar RCV Id:
RCV004016704
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005242.2:p.Asn468Ile
CA384368081
NM_001005242.3:c.1403A>T