Canonical Allele Identifier: PA2825207468
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2168841
ClinVar RCV Id: RCV003082773

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Asp492His
CA7644669
NM_000520.6:c.1474G>C