Canonical Allele Identifier: PA2580202957
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1804161
ClinVar RCV Id: RCV002468899
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Trp471Arg
CA393059210
NM_001318825.2:c.1411T>C
CA393059212
NM_001318825.2:c.1411T>A