Allele Registry

Canonical Allele Identifier: PA248678

Gene: ALG6 HGNC NCBI

ClinVar RCV:

RCV000023375

RCV000081558

ClinVar Variation:

30422

HGVS (amino-acid)	Matching Registered Transcripts
NP_037471.2:p.Tyr131His	CA248677 NM_013339.4:c.391T>C