Allele Registry

Canonical Allele Identifier: PA099618

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000004141

ClinVar Variation:

3935

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Leu39Arg	CA252933 NM_000520.6:c.116T>G