Allele Registry

Canonical Allele Identifier: PA916022691

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000416473

ClinVar Variation:

375353

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Asp186Ala	CA16044208 NM_001318825.2:c.557A>C