Canonical Allele Identifier: PA2580202622
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 2118752
ClinVar RCV Id: RCV003030636
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305754.1:p.Ser77Ala
CA393070088
NM_001318825.2:c.229T>G