Canonical Allele Identifier: PA1139683146
Gene: CLN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 942563
ClinVar RCV Id: RCV001212571
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035897.1:p.Glu242Asp
CA395344842
NM_001042432.2:c.726A>C
CA395344843
NM_001042432.2:c.726A>T