Canonical Allele Identifier: PA2825206910
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1384917
ClinVar RCV Id: RCV001924949
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Leu273Ser
CA393062714
NM_000520.6:c.818T>C