Canonical Allele Identifier: PA916022745
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 218337
ClinVar RCV Id: RCV000202576

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Arg404Pro
CA277861
NM_001318825.2:c.1211G>C