Allele Registry

Canonical Allele Identifier: PA658827357

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000670568

ClinVar Variation:

554863

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Gly18Glu	CA7645123 NM_000520.6:c.53G>A