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: PA2825382904

Gene: ALG13 HGNC NCBI

Linked Data

ClinVar Variation Id: 1167759

ClinVar RCV Id: RCV001517370 RCV001587451

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034299.3:p.Arg77Cys	CA10493475 NM_001039210.5:c.229C>T