ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915961065
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
319919
ClinVar RCV Id:
RCV000341379
RCV001328102
RCV001389305
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000330.3:p.Arg964Trp
CA8070131
NM_000339.3:c.2890C>T