Allele Registry

Canonical Allele Identifier: PA074806

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000207019

ClinVar Variation:

221281

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Asp322Tyr	CA074642 NM_000520.6:c.964G>T