Canonical Allele Identifier: PA2580423176
Gene: CLN8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2132601
ClinVar RCV Id: RCV003063829

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_061764.2:p.Lys191Asn
CA369953862
NM_018941.4:c.573G>C
CA369953863
NM_018941.4:c.573G>T