ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA346992
Gene: SLC52A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_212134.3:p.Leu350Met
CA346991
NM_033409.4:c.1048T>A