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: PA2828523010

Gene: CTNS HGNC NCBI

Linked Data

ClinVar Variation Id: 21439

ClinVar RCV Id: RCV000020624 RCV001276660 RCV001781295 RCV002243657 RCV002513140

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361421.1:p.Leu158Pro	CA342075 NM_001374492.1:c.473T>C