ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645435309
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_001005337.1:p.Arg202His
CA1324132
NM_001005337.3:c.605G>A