ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658807194
Gene: SLC12A6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521402
ClinVar RCV Id:
RCV000623060
RCV002287895
RCV002532836
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_598408.1:p.Arg207His
CA391612748
NM_133647.2:c.620G>A