Canonical Allele Identifier: PA2826704719
Gene: CLN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 128775
ClinVar RCV Id: RCV000116748 RCV000223968 RCV001081596 RCV001116001 RCV000274494 RCV002313869
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001273033.1:p.His380Asn
CA288720
NM_001286104.2:c.1138C>A