Canonical Allele Identifier: PA2827190179
Gene: ALDH18A1 HGNC NCBI
ClinVar RCV:
RCV000200958
ClinVar Variation:
217119
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001310342.1:p.Arg665Leu
CA280923
NM_001323413.2:c.1994G>T