Allele Registry

Canonical Allele Identifier: PA2826707481

Gene: CLN3 HGNC NCBI

ClinVar Allele:

134224

ClinVar RCV:

RCV000116748

RCV000223968

RCV000274494

RCV001081596

RCV001116001

RCV002313869

ClinVar Variation:

128775

HGVS (amino-acid)	Matching Registered Transcripts
NP_001273039.1:p.His350Asn	CA288720 NM_001286110.2:c.1048C>A