Canonical Allele Identifier: PA248678
Gene: ALG6 HGNC NCBI

Linked Data

ClinVar Variation Id: 30422
ClinVar RCV Id: RCV000023375 RCV000081558
JSON-LD

Amino-acid Alleles

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