Canonical Allele Identifier: PA245952
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 197682
ClinVar RCV Id: RCV000520360 RCV001832027
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.His179Arg
CA245951
NM_000520.6:c.536A>G