Canonical Allele Identifier: PA2826705148
Gene: CLN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 205083
ClinVar RCV Id: RCV000187004 RCV000696008 RCV001785494
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001273034.1:p.Val190Leu
CA313680
NM_001286105.2:c.568G>T
CA395344470
NM_001286105.2:c.568G>C