Allele Registry

Canonical Allele Identifier: PA2580202607

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV002569634

ClinVar Variation:

1896094

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Val60Ala	CA393070273 NM_001318825.2:c.179T>C