ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580488234
Gene: SLC12A6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_598408.1:p.Lys715Arg
CA391620212
NM_133647.2:c.2144A>G