Allele Registry

Canonical Allele Identifier: PA2825206248

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV002580839

ClinVar Variation:

1905393

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Ala17Leu	CA2580089947 NM_000520.6:c.49_50delinsTT