Allele Registry

Canonical Allele Identifier: PA351475

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000202369

ClinVar Variation:

218134

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Glu462Val	CA279889 NM_000520.6:c.1385A>T