ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139761632
Gene: ALG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
954177
ClinVar RCV Id:
RCV001226589
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149078.1:p.Leu99Pro
CA5156424
NM_033087.4:c.296T>C