ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915995914
Gene: SLC12A1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001171761.1:p.Glu281Asp
NM_001184832.2:c.843G>C
NM_001184832.2:c.843G>T