Canonical Allele Identifier: PA915976466
Gene: CLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 205125
ClinVar RCV Id: RCV000395302 RCV000726511 RCV001727624 RCV001082301 RCV001111458 RCV002317080
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006484.2:p.Ala2Val
CA313861
NM_006493.4:c.5C>T