Canonical Allele Identifier: PA2825207088
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2428492
ClinVar RCV Id: RCV003111523

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Phe344Ile
CA393061918
NM_000520.6:c.1030T>A