Canonical Allele Identifier: PA916022779
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3906

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Arg515Cys
CA116503
NM_001318825.2:c.1543C>T