Canonical Allele Identifier: PA2580202786
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2086529
ClinVar RCV Id: RCV003007530
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Phe316Leu
CA393062386
NM_001318825.2:c.948C>G
CA393062388
NM_001318825.2:c.948C>A
CA393062398
NM_001318825.2:c.946T>C