Canonical Allele Identifier: PA2825110311
Gene: PKD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000287.4:p.Ser2100Leu
CA7831644
NM_000296.4:c.6299C>T
CA3054214659
NM_000296.4:c.6298_6299delinsCT