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: PA915976674

Gene: CLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2570

ClinVar RCV Id: RCV000002679 RCV000493479 RCV001318349

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_006484.2:p.Tyr325Cys	CA252339 NM_006493.4:c.974A>G