Canonical Allele Identifier: PA2825207085
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 649716
ClinVar RCV Id: RCV000804707 RCV001284498
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Gly343Val
CA7644838
NM_000520.6:c.1028G>T