Canonical Allele Identifier: PA645468302
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 421021

Amino-acid Alleles

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