ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573181952
Gene: SLC12A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1428568
ClinVar RCV Id:
RCV001948306
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128243.1:p.Val1037Met
CA409207949
NM_001134771.2:c.3109G>A