Allele Registry

Canonical Allele Identifier: PA2580202564

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV003100529

ClinVar Variation:

2169094

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Ala17Val	CA393070729 NM_001318825.2:c.50C>T