ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915977891
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498813
ClinVar RCV Id:
RCV000591358
RCV000989608
RCV003488715
RCV004024751
RCV003935605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119580.2:p.Ala322Val
CA8069291
NM_001126108.2:c.965C>T