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: PA2828215287

Gene: CLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1466041

ClinVar RCV Id: RCV001963869

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001353553.1:p.Arg150Gln	CA252176564 NM_001366624.2:c.449G>A