ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827190407
Gene: ALDH18A1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000200959
RCV000761744
RCV001095737
RCV003765292
ClinVar Variation:
217117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310343.1:p.Arg252Gln
CA347466
NM_001323414.2:c.755G>A