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: PA2828215277

Gene: CLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 373760

ClinVar RCV Id: RCV000414655 RCV000686723 RCV001275303

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001353553.1:p.Gly142Arg	CA7007202 NM_001366624.2:c.424G>C