ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580488127
Gene: SLC12A6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1996507
ClinVar RCV Id:
RCV002823757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_598408.1:p.Val202Gly
CA391612830
NM_133647.2:c.605T>G