Canonical Allele Identifier: PA221066
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 93190
ClinVar RCV Id: RCV000079050 RCV000377261
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000511.2:p.Asn466Ser
CA221065
NM_000520.6:c.1397A>G