Canonical Allele Identifier: PA2825206418
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1462712
ClinVar RCV Id: RCV001994888
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Gly57Arg
CA393070307
NM_000520.6:c.169G>C