Allele Registry

Canonical Allele Identifier: PA1139712855

Gene: CLN5 HGNC NCBI

ClinVar RCV:

RCV000002673

RCV000484812

RCV000684967

ClinVar Variation:

2564

HGVS (amino-acid)	Matching Registered Transcripts
NP_006484.2:p.Tyr343Ter	CA339999 NM_006493.4:c.1028_1029del CA2103436705 NM_006493.4:c.1028dup