ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139718350
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
921499
ClinVar RCV Id:
RCV001180942
RCV003617902
RCV004006702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004563.2:p.Asn89Tyr
CA384366603
NM_004572.4:c.265A>T