Allele Registry

Canonical Allele Identifier: PA916022725

Gene: HEXA HGNC NCBI

ClinVar Allele:

362124

ClinVar RCV:

RCV000416422

RCV003323529

ClinVar Variation:

375356

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Thr274Ile	CA16044205 NM_001318825.2:c.821C>T