ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825143255
Gene: SLC12A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000330.3:p.Ala469Asp
CA395987648
NM_000339.3:c.1406C>A