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: PA2499283949

Gene: CLN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1003879

ClinVar RCV Id: RCV001300500

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060352.1:p.Phe120Leu	CA392973574 NM_017882.3:c.360C>G CA392973575 NM_017882.3:c.360C>A CA392973580 NM_017882.3:c.358T>C