ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645415173
Gene: SLC12A6
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_598408.1:p.Glu806Ter
NM_133647.2:c.2416G>T