Allele Registry

Canonical Allele Identifier: PA2825206402

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV001986109

ClinVar Variation:

1490873

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Ala53Ser	CA393070350 NM_000520.6:c.157G>T