Allele Registry

Canonical Allele Identifier: PA645468302

Gene: HEXA HGNC NCBI

ClinVar Allele:

409341

ClinVar RCV:

RCV000485524

RCV000675092

ClinVar Variation:

421021

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Ser177Cys	CA16620003 NM_000520.6:c.530C>G