Canonical Allele Identifier: PA099361
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_000511.2:p.Arg178Cys
CA116499
NM_000520.6:c.532C>T