Canonical Allele Identifier: PA891866060
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3895
ClinVar RCV Id: RCV000004099 RCV000409695 RCV001800288
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Arg515His
CA116497
NM_001318825.2:c.1544G>A