Canonical Allele Identifier: PA658804164
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 522667
ClinVar RCV Id: RCV000625807
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Arg252Cys
CA7644905
NM_000520.6:c.754C>T