Allele Registry

Canonical Allele Identifier: PA2825206434

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000806667

ClinVar Variation:

651332

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Leu61Phe	CA393070269 NM_000520.6:c.181C>T