Canonical Allele Identifier: PA099378
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3896
ClinVar RCV Id: RCV000004101 RCV000004100 RCV000409508 RCV000396083 RCV001255389 RCV002345228 RCV003964792
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Arg178His
CA116498
NM_000520.6:c.533G>A