ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825595975
Gene: SLC12A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
375217
ClinVar RCV:
RCV000439274
RCV000762973
ClinVar Variation:
381528
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119579.2:p.Arg398Leu
CA8069399
NM_001126107.2:c.1193G>T