Allele Registry

Canonical Allele Identifier: PA2573199311

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV001957357

ClinVar Variation:

1425182

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Arg424Pro	CA7644749 NM_001318825.2:c.1271G>C