Canonical Allele Identifier: PA099649
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3933
ClinVar RCV Id: RCV000004139 RCV001250228
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Met301Arg
CA252931
NM_000520.6:c.902T>G