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: PA2829667571

Gene: CLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1936370

ClinVar RCV Id: RCV002642550

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_006484.2:p.Tyr292Phe	CA388313919 NM_006493.4:c.875A>T