Canonical Allele Identifier: PA1139687918
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3896
ClinVar RCV Id: RCV000004101 RCV000004100 RCV000409508 RCV000396083 RCV001255389 RCV002345228 RCV003964792
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Arg189His
CA116498
NM_001318825.2:c.566G>A