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: PA2499248189

Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 1004843

ClinVar RCV Id: RCV001301615

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305754.1:p.Arg19Trp	CA393070716 NM_001318825.2:c.55C>T