ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825782539
Gene: SLC12A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1396778
ClinVar RCV Id:
RCV001920046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128243.1:p.Pro1003Thr
CA409207615
NM_001134771.2:c.3007C>A