Allele Registry

Canonical Allele Identifier: PA915976570

Gene: CLN5 HGNC NCBI

ClinVar RCV:

RCV000187061

RCV001239747

RCV001272146

ClinVar Variation:

205137

HGVS (amino-acid)	Matching Registered Transcripts
NP_006484.2:p.Ala163Thr	CA313897 NM_006493.4:c.487G>A