ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915977944
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
381528
ClinVar RCV Id:
RCV000439274
RCV000762973
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119580.2:p.Arg399Leu
CA8069399
NM_001126108.2:c.1196G>T