Allele Registry

Canonical Allele Identifier: PA252408

Gene: ALG2 HGNC NCBI

ClinVar Allele:

17739

ClinVar RCV:

RCV002221145

ClinVar Variation:

2700

HGVS (amino-acid)	Matching Registered Transcripts
NP_149078.1:p.Lys131Asn	CA252407 NM_033087.4:c.393G>T CA374229694 NM_033087.4:c.393G>C