Canonical Allele Identifier: PA916022746
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 555043
ClinVar RCV Id: RCV000670783

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Pro408Ser
CA7644760
NM_001318825.2:c.1222C>T