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: PA096805

Gene: ALG9 HGNC NCBI

Linked Data

ClinVar Variation Id: 3748

ClinVar RCV Id: RCV000003946

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001071158.1:p.Glu523Lys	CA252860 NM_001077690.1:c.1567G>A