Allele Registry

Canonical Allele Identifier: PA2826705225

Gene: CLN3 HGNC NCBI

ClinVar Allele:

70935

ClinVar RCV:

RCV000049708

RCV001378302

ClinVar Variation:

56296

HGVS (amino-acid)	Matching Registered Transcripts
NP_001273034.1:p.Val230Phe	CA263744 NM_001286105.2:c.688G>T