Allele Registry

Canonical Allele Identifier: PA252980

Gene: CLN6 HGNC NCBI

ClinVar RCV:

RCV000004293

RCV003388365

ClinVar Variation:

4078

2627171

HGVS (amino-acid)	Matching Registered Transcripts
NP_060352.1:p.Tyr172del	CA252978 NM_017882.3:c.514_516del CA971079910 NM_017882.3:c.510_512del