ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139680882
Gene: PKD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
873391
ClinVar RCV Id:
RCV001095622
RCV001172091
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009944.3:p.Arg2434Trp
CA7831188
NM_001009944.3:c.7300C>T