ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580490644
Gene: ALG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1927520
ClinVar RCV Id:
RCV002609917
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149078.1:p.Gly83_Gly85dup