Canonical Allele Identifier: PA2573199283
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1495581
ClinVar RCV Id: RCV002028308

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Gly182Asp
CA393064909
NM_001318825.2:c.545G>A