Allele Registry

Canonical Allele Identifier: PA099676

Gene: HEXA HGNC NCBI

ClinVar Allele:

18947

ClinVar RCV:

RCV000004114

ClinVar Variation:

3908

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Ser210Phe	CA252918 NM_000520.6:c.629C>T