ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825283711
Gene: ALG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2561
ClinVar RCV Id:
RCV000002670
RCV002496232
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007028.1:p.Thr47Pro
CA252325
NM_001007027.2:c.139A>C