Allele Registry

Canonical Allele Identifier: PA916022745

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000202576

ClinVar Variation:

218337

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Arg404Pro	CA277861 NM_001318825.2:c.1211G>C