Canonical Allele Identifier: PA916022742
Gene: HEXA HGNC NCBI

Linked Data


Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001305754.1:p.Gln395Ter
NM_001318825.2:c.[1182del;1184A>T;1186C>A...

NM_001318825.2:c.1183C>T