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: PA915976547

Gene: CLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 56539

ClinVar RCV Id: RCV000049952 RCV000989151

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_006484.2:p.Asn143Ser	CA263898 NM_006493.4:c.428A>G