Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA916022655

Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 554863

ClinVar RCV Id: RCV000670568

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001305754.1:p.Gly18Glu