Allele Registry

Canonical Allele Identifier: PA1139688184

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000190592

RCV000375852

ClinVar Variation:

126510

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Arg260Trp	CA276005 NM_001318825.2:c.778C>T