Canonical Allele Identifier: PA916022753
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3901
ClinVar RCV Id: RCV000004107
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Trp431Cys
CA252910
NM_001318825.2:c.1293G>C
CA393060764
NM_001318825.2:c.1293G>T