Canonical Allele Identifier: PA916022693
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3897
ClinVar RCV Id: RCV000004102 RCV000416435
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Arg189Cys
CA116499
NM_001318825.2:c.565C>T