ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573180026
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1489260
ClinVar RCV Id:
RCV002001456
RCV003333198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119580.2:p.Arg399His
CA8069397
NM_001126108.2:c.1196G>A