Canonical Allele Identifier: PA2580203013
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2168841
ClinVar RCV Id: RCV003082773

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Asp503His
CA7644669
NM_001318825.2:c.1507G>C