Allele Registry

Canonical Allele Identifier: PA916022740

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000416466

ClinVar Variation:

375360

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Gln385Pro	CA16044201 NM_001318825.2:c.1154A>C