Canonical Allele Identifier: PA2829948498
Gene: SLC12A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2101967
ClinVar RCV Id: RCV003026272

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065759.1:p.Phe1032Leu
CA409208241
NM_020708.5:c.3094T>C
CA409208253
NM_020708.5:c.3096C>A
CA409208256
NM_020708.5:c.3096C>G