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: PA915976477

Gene: CLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 205141

ClinVar RCV Id: RCV000187066 RCV000306509 RCV000553078 RCV001111459 RCV003298245

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_006484.2:p.Arg21Trp	CA313909 NM_006493.4:c.61C>T