ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA204580
Gene: SLC12A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000330.2:p.Gly741Arg
NM_000339.2:c.2221G>A
NM_000339.2:c.2221G>C