Canonical Allele Identifier: PA2573199327
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1366981
ClinVar RCV Id: RCV001932380
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Ser497Asn
CA393058784
NM_001318825.2:c.1490G>A