ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825109255
Gene: PKD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
997280
ClinVar RCV Id:
RCV001292308
RCV002538411
RCV003953638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000287.4:p.His728Arg
CA276782869
NM_000296.4:c.2183A>G