Canonical Allele Identifier: PA2580202594
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2246005
ClinVar RCV Id: RCV002738067
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Leu39Phe
CA393070521
NM_001318825.2:c.115C>T