Allele Registry

Canonical Allele Identifier: PA099472

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000004130

RCV000801596

RCV001810829

ClinVar Variation:

3924

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Asp258His	CA116509 NM_000520.6:c.772G>C