Canonical Allele Identifier: PA2825207405
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1804161
ClinVar RCV Id: RCV002468899

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Trp460Arg
CA393059210
NM_000520.6:c.1378T>C
CA393059212
NM_000520.6:c.1378T>A