ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915961068
Gene: SLC12A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
417864
ClinVar RCV Id:
RCV000477802
RCV000681947
RCV002525742
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000330.3:p.Arg964Gln
CA8070132
NM_000339.3:c.2891G>A