ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829948494
Gene: SLC12A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1998790
ClinVar RCV Id:
RCV002814912
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065759.1:p.Ser1025Phe
CA409208116
NM_020708.5:c.3074C>T