Canonical Allele Identifier: PA916022699
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3939
ClinVar RCV Id: RCV000004145 RCV002512735
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Tyr191His
CA116513
NM_001318825.2:c.571T>C