Canonical Allele Identifier: PA2825109241
Gene: PKD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1805105
ClinVar RCV Id: RCV002471523

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000287.4:p.Asp713Glu
CA394389297
NM_000296.4:c.2139C>G
CA394389298
NM_000296.4:c.2139C>A