Canonical Allele Identifier: PA099720
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3941
ClinVar RCV Id: RCV000004147 RCV001244261
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Trp474Cys
CA116514
NM_000520.6:c.1422G>C
CA393058926
NM_000520.6:c.1422G>T