Canonical Allele Identifier: PA2825206358
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2246005
ClinVar RCV Id: RCV002738067
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Leu39Phe
CA393070521
NM_000520.6:c.115C>T