ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825596935
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448395
ClinVar RCV Id:
RCV000517299
RCV001271446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119579.2:p.Cys993Tyr
CA8070172
NM_001126107.2:c.2978G>A