Canonical Allele Identifier: PA2573199319
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1365561
ClinVar RCV Id: RCV001961850

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Pro450Thr
CA393060407
NM_001318825.2:c.1348C>A