Allele Registry

Canonical Allele Identifier: PA2825110063

Gene: PKD1 HGNC NCBI

ClinVar RCV:

RCV000518272

RCV001092714

RCV001262469

RCV003243164

ClinVar Variation:

447988

HGVS (amino-acid)	Matching Registered Transcripts
NP_000287.4:p.Ala1818Val	CA7831972 NM_000296.4:c.5453C>T