ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499256923
Gene: SLC12A1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001371065.1:p.Pro254Ser
NM_001384136.1:c.760C>T