ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915978045
Gene: SLC12A3
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001119580.2:p.Arg642His
NM_001126108.2:c.1925G>A