Canonical Allele Identifier: PA2573199271
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1462712
ClinVar RCV Id: RCV001994888

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Gly57Arg
CA393070307
NM_001318825.2:c.169G>C