ClinGen Allele Registry
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Canonical Allele Identifier:
PA913194567
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
629108
ClinVar RCV Id:
RCV000773797
RCV000845568
RCV001856068
RCV002422657
RCV004001328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004563.2:p.Lys692Arg
CA032566
NM_004572.4:c.2075A>G