ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827190398
Gene: ALDH18A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217116
ClinVar RCV Id:
RCV000200956
RCV003389243
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310343.1:p.Val243Leu
CA347465
NM_001323414.2:c.727G>C