ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA135455
Gene: PKP2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000038172
RCV000148726
RCV000205511
RCV000239283
RCV000621305
RCV000771145
RCV000852676
RCV001705683
RCV003318346
ClinVar Variation:
45033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004563.2:p.Thr526Met
CA010636
NM_004572.4:c.1577C>T