Allele Registry

Canonical Allele Identifier: PA915976581

Gene: CLN5 HGNC NCBI

ClinVar RCV:

RCV000187073

RCV000473641

RCV001275304

ClinVar Variation:

205147

HGVS (amino-acid)	Matching Registered Transcripts
NP_006484.2:p.Asn190Ser	CA313927 NM_006493.4:c.569A>G