Allele Registry

Canonical Allele Identifier: PA351480

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000202576

ClinVar Variation:

218337

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Arg393Pro	CA277861 NM_000520.6:c.1178G>C