ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825595974
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1489260
ClinVar RCV Id:
RCV002001456
RCV003333198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119579.2:p.Arg398His
CA8069397
NM_001126107.2:c.1193G>A