Canonical Allele Identifier: PA074806
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 221281
ClinVar RCV Id: RCV000207019

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Asp322Tyr
CA074642
NM_000520.6:c.964G>T