Canonical Allele Identifier: PA2825207354
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1365561
ClinVar RCV Id: RCV001961850

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Pro439Thr
CA393060407
NM_000520.6:c.1315C>A