ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825596418
Gene: SLC12A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
23627
ClinVar RCV:
RCV000009119
RCV000518052
RCV001328221
ClinVar Variation:
8588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119579.2:p.Arg654His
CA119770
NM_001126107.2:c.1961G>A