ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829550470
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3224320
ClinVar RCV Id:
RCV004519046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004563.2:p.Ile637Met
CA384362982
NM_004572.4:c.1911C>G