ClinGen Allele Registry
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Canonical Allele Identifier:
PA915955633
Gene: PKD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000415037
RCV000501988
RCV002510884
RCV002521461
ClinVar Variation:
374206
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009944.3:p.His1262Arg
CA16043508
NM_001009944.3:c.3785A>G