ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580462197
Gene: SLC52A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078807.1:p.Leu359Val
CA372629057
NM_024531.5:c.1075C>G