Allele Registry

Canonical Allele Identifier: PA2828215303

Gene: CLN5 HGNC NCBI

ClinVar RCV:

RCV000187061

RCV001239747

RCV001272146

ClinVar Variation:

205137

HGVS (amino-acid)	Matching Registered Transcripts
NP_001353553.1:p.Ala163Thr	CA313897 NM_001366624.2:c.487G>A