ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825143253
Gene: SLC12A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000330.3:p.Ser467Phe
CA8069457
NM_000339.3:c.1400C>T