Allele Registry

Canonical Allele Identifier: PA916022751

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000670540

ClinVar Variation:

554841

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Arg424Trp	CA7644751 NM_001318825.2:c.1270C>T