ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915956008
Gene: PKD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
440135
ClinVar RCV Id:
RCV000710171
RCV000735684
RCV001254209
RCV001292326
RCV003409720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009944.3:p.Ile3167Phe
CA7830069
NM_001009944.3:c.9499A>T