ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827646550
Gene: ALG9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3749
ClinVar RCV Id:
RCV000003947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339346.1:p.Tyr287Cys
CA252862
NM_001352417.1:c.860A>G