Canonical Allele Identifier: PA099385
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3912
ClinVar RCV Id: RCV000004118 RCV003476891
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Arg178Leu
CA252921
NM_000520.6:c.533G>T