Canonical Allele Identifier: PA916022689
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3900
ClinVar RCV Id: RCV000004106 RCV000336253
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Arg181Gln
CA252909
NM_001318825.2:c.542G>A