ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573216373
Gene: SLC12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1407972
ClinVar RCV Id:
RCV001909397
RCV002246590
RCV004042767
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371065.1:p.Glu368Gly
CA392308487
NM_001384136.1:c.1103A>G