ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829583539
Gene: SLC12A6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000414753
RCV000872105
RCV001272574
RCV002402103
RCV003970092
ClinVar Variation:
373219
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005126.1:p.Asn483Ser
CA7464263
NM_005135.2:c.1448A>G