ClinGen Allele Registry
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Canonical Allele Identifier:
PA915956082
Gene: PKD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000243834
RCV000576428
RCV001254192
RCV001291846
RCV001534862
ClinVar Variation:
256893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009944.3:p.Ala3512Val
CA7829527
NM_001009944.3:c.10535C>T