Allele Registry

Canonical Allele Identifier: PA2825111205

Gene: PKD1 HGNC NCBI

ClinVar RCV:

RCV000249572

RCV000252210

RCV000999966

RCV001254263

RCV001636754

ClinVar Variation:

257038

257040

HGVS (amino-acid)	Matching Registered Transcripts
NP_000287.4:p.Phe3066Leu	CA7830166 NM_000296.4:c.9198T>A CA7830167 NM_000296.4:c.9196T>C CA10587231 NM_000296.4:c.9195_9196delinsCC CA394358426 NM_000296.4:c.9198T>G