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: PA891854626

Gene: CLN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 582187

ClinVar RCV Id: RCV000706190 RCV003736894

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060352.1:p.Arg310Gln	CA7630438 NM_017882.3:c.929G>A