Canonical Allele Identifier: PA2580490702
Gene: ALG2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149078.1:p.Arg251Cys
CA5156259
NM_033087.4:c.751C>T
CA2580080856
NM_033087.4:c.750_751delinsTT