ClinGen Allele Registry
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Canonical Allele Identifier:
PA915955722
Gene: PKD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000518272
RCV001092714
RCV001262469
RCV003243164
ClinVar Variation:
447988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001009944.3:p.Ala1818Val
CA7831972
NM_001009944.3:c.5453C>T