ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825595857
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448400
ClinVar RCV Id:
RCV000516845
RCV001274377
RCV003409740
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119579.2:p.Ala312Val
CA8069267
NM_001126107.2:c.935C>T