Canonical Allele Identifier: PA915958570
Gene: HEXB HGNC NCBI

Linked Data

ClinVar Variation Id: 193999
ClinVar RCV Id: RCV000174253 RCV001323093
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000512.2:p.Val493Gly
CA200905
NM_000521.4:c.1478T>G