Canonical Allele Identifier: PA276006
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 126510
ClinVar RCV Id: RCV000190592 RCV000375852
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Arg249Trp
CA276005
NM_000520.6:c.745C>T