ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827190717
Gene: ALDH18A1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000196978
RCV001814103
RCV003765290
ClinVar Variation:
216888
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310343.1:p.Arg765Gln
CA210009
NM_001323414.2:c.2294G>A