ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825112739
Gene: PKP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
294809
ClinVar RCV Id:
RCV000278105
RCV000960006
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000290.2:p.Arg202His
CA1324132
NM_000299.4:c.605G>A