Canonical Allele Identifier: PA2829667608
Gene: CLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2558880
ClinVar RCV Id: RCV003300612
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006484.2:p.Leu348Phe
CA388314924
NM_006493.4:c.1044A>C
CA388314926
NM_006493.4:c.1044A>T