Canonical Allele Identifier: PA916022680
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 218335
ClinVar RCV Id: RCV000203235

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Glu125Lys
CA10575831
NM_001318825.2:c.373G>A