Allele Registry

Canonical Allele Identifier: PA645468470

Gene: HEXA HGNC NCBI

ClinVar Allele:

362116

ClinVar RCV:

RCV000416475

ClinVar Variation:

375364

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Gly478Arg	CA16044197 NM_000520.6:c.1432G>A CA393058884 NM_000520.6:c.1432G>C