ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827192439
Gene: ALDH18A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310348.1:p.Val114del
CA2574655497
NM_001323419.2:c.340_342del