Canonical Allele Identifier: PA2825206249
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2169094
ClinVar RCV Id: RCV003100529
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Ala17Val
CA393070729
NM_000520.6:c.50C>T