Canonical Allele Identifier: PA2829948466
Gene: SLC12A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 946541
ClinVar RCV Id: RCV001217426

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065759.1:p.His975Gln
CA9887752
NM_020708.5:c.2925C>A
CA409207584
NM_020708.5:c.2925C>G