Canonical Allele Identifier: PA2825206686
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1495581
ClinVar RCV Id: RCV002028308
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Gly171Asp
CA393064909
NM_000520.6:c.512G>A