ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573180045
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1488711
ClinVar RCV Id:
RCV001980278
RCV002243499
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119580.2:p.Gly463Glu
CA395987546
NM_001126108.2:c.1388G>A