ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825782538
Gene: SLC12A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
644671
ClinVar RCV Id:
RCV000798640
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128243.1:p.Ala1002Thr
CA9887755
NM_001134771.2:c.3004G>A