ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658679712
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
464414
ClinVar RCV Id:
RCV000538367
RCV000776328
RCV000618135
RCV003999140
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004563.2:p.Thr604Met
CA031003
NM_004572.4:c.1811C>T