Allele Registry

Canonical Allele Identifier: PA099657

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000004135

ClinVar Variation:

3929

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Phe211Ser	CA252928 NM_000520.6:c.632T>C