Allele Registry

Canonical Allele Identifier: PA276006

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000190592

RCV000375852

ClinVar Variation:

126510

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Arg249Trp	CA276005 NM_000520.6:c.745C>T