Canonical Allele Identifier: PA2825206983
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2168962
ClinVar RCV Id: RCV003082834

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Thr303Ile
CA393062415
NM_000520.6:c.908C>T