ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825283799
Gene: ALG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2127292
ClinVar RCV Id:
RCV003047714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007028.1:p.Ala287Thr
CA382116038
NM_001007027.2:c.859G>A