Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: PKD1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_011520836.1:p.His4049Gln	CA394325317 XM_011522534.1:c.12147C>G CA394325331 XM_011522534.1:c.12147C>A