ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915961071
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448395
ClinVar RCV Id:
RCV000517299
RCV001271446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000330.3:p.Cys994Tyr
CA8070172
NM_000339.3:c.2981G>A