Canonical Allele Identifier: PA915976670
Gene: CLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 128778
ClinVar RCV Id: RCV000116751 RCV000372934 RCV000675523 RCV000610127 RCV001273177 RCV002312074
ClinVar Variation Id: 1093126
ClinVar RCV Id: RCV001413204 RCV001638088
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006484.2:p.Lys319Arg
CA152426
NM_006493.4:c.956A>G
CA2103436429
NM_006493.4:c.955_956delinsCG