ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580157131
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_001128243.1:p.Ser1048Phe
CA409208116
NM_001134771.2:c.3143C>T