Canonical Allele Identifier: PA916022776
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3915
ClinVar RCV Id: RCV000004121 RCV000169417 RCV002390089
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Arg510Cys
CA116504
NM_001318825.2:c.1528C>T