ClinGen Allele Registry
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Canonical Allele Identifier:
PA645490827
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229147
ClinVar RCV Id:
RCV000214518
RCV000231364
RCV000618864
RCV001176809
RCV001699016
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004563.2:p.Thr242Met
CA038506
NM_004572.4:c.725C>T