Canonical Allele Identifier: PA916022690
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3925
ClinVar RCV Id: RCV000004131 RCV002345229
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Arg181Trp
CA252927
NM_001318825.2:c.541C>T