ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825143200
Gene: SLC12A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
343461
ClinVar RCV:
RCV000366193
RCV001401125
ClinVar Variation:
319899
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000330.3:p.Glu417Lys
CA8069407
NM_000339.3:c.1249G>A