Canonical Allele Identifier: PA2573064089
Gene: PKD1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001009944.3:p.Ser2131Arg
CA394373645
NM_001009944.3:c.6393C>A
CA394373646
NM_001009944.3:c.6393C>G
CA394373652
NM_001009944.3:c.6391A>C