Canonical Allele Identifier: PA075076
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 221280
ClinVar RCV Id: RCV000207246

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Asp322Asn
CA074928
NM_000520.6:c.964G>A