ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827191823
Gene: ALDH18A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310346.1:p.Arg390Cys
CA5620362
NM_001323417.2:c.1168C>T