Canonical Allele Identifier: PA916022758
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 618678
ClinVar RCV Id: RCV000757371

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Pro457Arg
CA393059388
NM_001318825.2:c.1370C>G