ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827190347
Gene: ALDH18A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217121
ClinVar RCV Id:
RCV000200953
RCV000484074
RCV003765294
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310343.1:p.Arg128His
CA215054
NM_001323414.2:c.383G>A