Allele Registry

Canonical Allele Identifier: PA2573199317

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV001890551

ClinVar Variation:

1382790

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Ile447Leu	CA393060456 NM_001318825.2:c.1339A>C CA393060459 NM_001318825.2:c.1339A>T