ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825143053
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
209191
ClinVar RCV Id:
RCV000191129
RCV000681951
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000330.3:p.Leu272Pro
CA250393
NM_000339.3:c.815T>C