Allele Registry

Canonical Allele Identifier: PA915976547

Gene: CLN5 HGNC NCBI

ClinVar RCV:

RCV000049952

RCV000989151

ClinVar Variation:

56539

HGVS (amino-acid)	Matching Registered Transcripts
NP_006484.2:p.Asn143Ser	CA263898 NM_006493.4:c.428A>G