Canonical Allele Identifier: PA916022773
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 656465
ClinVar RCV Id: RCV000812893
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Asp503Glu
CA393058701
NM_001318825.2:c.1509C>A
CA393058703
NM_001318825.2:c.1509C>G