Canonical Allele Identifier: PA2826707067
Gene: CLN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2187603
ClinVar RCV Id: RCV002615887
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001273039.1:p.Ser193Arg
CA7980840
NM_001286110.2:c.577A>C
CA395344799
NM_001286110.2:c.579C>G
CA395344800
NM_001286110.2:c.579C>A