Allele Registry

Canonical Allele Identifier: PA252937

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000004148

ClinVar Variation:

3942

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Leu451Val	CA252936 NM_000520.6:c.1351C>G