Allele Registry

Canonical Allele Identifier: PA916022711

Gene: HEXA HGNC NCBI

ClinVar Allele:

18947

ClinVar RCV:

RCV000004114

ClinVar Variation:

3908

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Ser221Phe	CA252918 NM_001318825.2:c.662C>T