ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825595873
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498813
ClinVar RCV Id:
RCV000591358
RCV000989608
RCV003488715
RCV004024751
RCV003935605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119579.2:p.Ala321Val
CA8069291
NM_001126107.2:c.962C>T