Canonical Allele Identifier: PA099430
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3906
ClinVar RCV Id: RCV000004112 RCV000169084 RCV001000970 RCV001508769
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Arg504Cys
CA116503
NM_000520.6:c.1510C>T