Canonical Allele Identifier: PA2825207287
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1349151
ClinVar RCV Id: RCV002046801
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Pro419Arg
CA7644746
NM_000520.6:c.1256C>G