Allele Registry

Canonical Allele Identifier: PA916022756

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000079049

RCV000283218

RCV000675467

RCV001399181

ClinVar Variation:

93189

697284

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Ile447Val	CA146732 NM_001318825.2:c.1339A>G CA915946066 NM_001318825.2:c.1338_1339delinsTG