Canonical Allele Identifier: PA2499245580
Gene: CLN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1172706

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001273033.1:p.Asn49Lys
CA395346538
NM_001286104.2:c.147C>G
CA395346539
NM_001286104.2:c.147C>A