Canonical Allele Identifier: PA2825110345
Gene: PKD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 431936
ClinVar RCV Id: RCV000498031 RCV001292314 RCV001332656 RCV001662486 RCV003915351 RCV004023328
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000287.4:p.Phe2132Cys
CA7831616
NM_000296.4:c.6395T>G