Canonical Allele Identifier: PA1139729653
Gene: CLN8 HGNC NCBI

Linked Data

ClinVar Variation Id: 972446
ClinVar RCV Id: RCV001248481 RCV001830040
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_061764.2:p.Trp195Cys
CA170448628
NM_018941.4:c.585G>C
CA369953890
NM_018941.4:c.585G>T