Canonical Allele Identifier: PA916022692
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 421021
ClinVar RCV Id: RCV000485524 RCV000675092
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Ser188Cys
CA16620003
NM_001318825.2:c.563C>G