ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827646315
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_001339344.1:p.Tyr116Cys
CA252862
NM_001352415.1:c.347A>G