Allele Registry

Canonical Allele Identifier: PA1139682391

Gene: PKD1 HGNC NCBI

ClinVar RCV:

RCV001249122

RCV004795824

ClinVar Variation:

972842

3382936

HGVS (amino-acid)	Matching Registered Transcripts
NP_001009944.3:p.Gly3190Arg	CA394355745 NM_001009944.3:c.9568G>C CA394355750 NM_001009944.3:c.9568G>A