Canonical Allele Identifier: PA645468281
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 218335
ClinVar RCV Id: RCV000203235
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Glu114Lys
CA10575831
NM_000520.6:c.340G>A