Allele Registry

Canonical Allele Identifier: PA148604

Gene: ALG6 HGNC NCBI

ClinVar RCV:

RCV000081560

RCV000323730

ClinVar Variation:

95531

HGVS (amino-acid)	Matching Registered Transcripts
NP_037471.2:p.Ser304Phe	CA148603 NM_013339.4:c.911C>T