Allele Registry

Canonical Allele Identifier: PA645468281

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000203235

ClinVar Variation:

218335

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Glu114Lys	CA10575831 NM_000520.6:c.340G>A