ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580239671
Gene: SLC12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2383615
ClinVar RCV Id:
RCV002703632
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371065.1:p.Glu255Lys
CA7546899
NM_001384136.1:c.763G>A