Allele Registry

Canonical Allele Identifier: PA075076

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000207246

ClinVar Variation:

221280

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Asp322Asn	CA074928 NM_000520.6:c.964G>A