ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825317559
Gene: ALDH18A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
213762
ClinVar RCV:
RCV000200959
RCV000761744
RCV001095737
RCV003765292
ClinVar Variation:
217117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001017423.1:p.Arg250Gln
CA347466
NM_001017423.2:c.749G>A