ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828165305
Gene: SLC12A6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1429967
ClinVar RCV Id:
RCV001939191
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352017.1:p.Ile223Thr
CA391611717
NM_001365088.1:c.668T>C