Canonical Allele Identifier: PA2825206243
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2054352
ClinVar RCV Id: RCV002909761
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Ala15Val
CA393070754
NM_000520.6:c.44C>T