Allele Registry

Canonical Allele Identifier: PA916022778

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000671879

ClinVar Variation:

555956

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Arg515Leu	CA7644664 NM_001318825.2:c.1544G>T