ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825283751
Gene: ALG8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007028.1:p.His160Tyr
CA6203473
NM_001007027.2:c.478C>T