Allele Registry

Canonical Allele Identifier: PA099361

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000004102

RCV000416435

ClinVar Variation:

3897

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Arg178Cys	CA116499 NM_000520.6:c.532C>T