Canonical Allele Identifier: PA2580427133
Gene: SLC12A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2278202
ClinVar RCV Id: RCV004124993

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065759.1:p.Ser984Arg
CA409207657
NM_020708.5:c.2950A>C
CA409207666
NM_020708.5:c.2952C>A
CA409207668
NM_020708.5:c.2952C>G