ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499239261
Gene: SLC12A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1003386
ClinVar RCV Id:
RCV001299932
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128243.1:p.Pro1024Ser
CA409207812
NM_001134771.2:c.3070C>T