ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825143386
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225469
ClinVar RCV Id:
RCV000279337
RCV000901287
RCV003417765
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000330.3:p.Val578Met
CA8069592
NM_000339.3:c.1732G>A