ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499238225
Gene: SLC12A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119580.2:p.Ala454Val
CA8069443
NM_001126108.2:c.1361C>T