Allele Registry

Canonical Allele Identifier: PA2825207266

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV003082794

ClinVar Variation:

2168887

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Arg413Gln	CA7644750 NM_000520.6:c.1238G>A