ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139678868
Gene: PKD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
975061
ClinVar RCV Id:
RCV001251464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009944.3:p.Arg825Trp
CA7833206
NM_001009944.3:c.2473C>T