Allele Registry

Canonical Allele Identifier: PA658804164

Gene: HEXA HGNC NCBI

ClinVar Allele:

513352

ClinVar RCV:

RCV000625807

ClinVar Variation:

522667

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Arg252Cys	CA7644905 NM_000520.6:c.754C>T