Allele Registry

Canonical Allele Identifier: PA645468426

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000416466

ClinVar Variation:

375360

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Gln374Pro	CA16044201 NM_000520.6:c.1121A>C