Allele Registry

Canonical Allele Identifier: PA2580202903

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV003082794

ClinVar Variation:

2168887

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Arg424Gln	CA7644750 NM_001318825.2:c.1271G>A