ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827190214
Gene: ALDH18A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217115
ClinVar RCV Id:
RCV000200955
RCV001198042
RCV003765291
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310342.1:p.Asp715His
CA280922
NM_001323413.2:c.2143G>C