Canonical Allele Identifier: PA099596
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3930
ClinVar RCV Id: RCV000004136
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Leu127Arg
CA252929
NM_000520.6:c.380T>G