Canonical Allele Identifier: PA1139729536
Gene: CLN8 HGNC NCBI

Linked Data

ClinVar Variation Id: 991260
ClinVar RCV Id: RCV001279444 RCV001349934
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_061764.2:p.Phe128Leu
CA369953449
NM_018941.4:c.382T>C
CA369953454
NM_018941.4:c.384C>A
CA369953455
NM_018941.4:c.384C>G