Allele Registry

Canonical Allele Identifier: PA2741822581

Gene: PKD1 HGNC NCBI

ClinVar RCV:

RCV003408776

RCV005020087

ClinVar Variation:

2634860

3579373

HGVS (amino-acid)	Matching Registered Transcripts
NP_001009944.3:p.Ser2100Leu	CA7831644 NM_001009944.3:c.6299C>T CA3054214659 NM_001009944.3:c.6298_6299delinsCT