ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573189588
Gene: SLC12A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243390.1:p.Gly175Ala
CA3392827
NM_001256461.2:c.524G>C