ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827192048
Gene: ALDH18A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000444022
RCV000995483
RCV003766249
ClinVar Variation:
382498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310346.1:p.Tyr747Ser
CA5620083
NM_001323417.2:c.2240A>C