ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658800768
Gene: SLC12A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000330.2:p.Ala322Val
CA8069291
NM_000339.2:c.965C>T