Canonical Allele Identifier: PA916022694
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3912
ClinVar RCV Id: RCV000004118 RCV003476891
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Arg189Leu
CA252921
NM_001318825.2:c.566G>T