Canonical Allele Identifier: PA2825207209
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1982939
ClinVar RCV Id: RCV002766924 RCV002785671
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Ile389Val
CA7644768
NM_000520.6:c.1165A>G