Allele Registry

Canonical Allele Identifier: PA915976507

Gene: CLN5 HGNC NCBI

ClinVar Allele:

71172

ClinVar RCV:

RCV000049946

RCV000989149

ClinVar Variation:

56533

HGVS (amino-acid)	Matching Registered Transcripts
NP_006484.2:p.Arg63Pro	CA263884 NM_006493.4:c.188G>C