ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825596307
Gene: SLC12A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003064345
ClinVar Variation:
2137825
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119579.2:p.Ala587Glu
CA8069597
NM_001126107.2:c.1760C>A