ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825143086
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448400
ClinVar RCV Id:
RCV000516845
RCV001274377
RCV003409740
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000330.3:p.Ala313Val
CA8069267
NM_000339.3:c.938C>T