ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825112762
Gene: PKP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2229318
ClinVar RCV Id:
RCV002692659
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000290.2:p.Val283Ile
CA344177877
NM_000299.4:c.847G>A