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: PA2828215213

Gene: CLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2569

ClinVar RCV Id: RCV000002678 RCV001039257

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001353553.1:p.Cys77Tyr	CA252336 NM_001366624.2:c.230G>A