Allele Registry

Canonical Allele Identifier: PA658827392

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000670540

ClinVar Variation:

554841

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Arg413Trp	CA7644751 NM_000520.6:c.1237C>T