Canonical Allele Identifier: PA2828215197
Gene: CLN5 HGNC NCBI
ClinVar RCV:
RCV002581590
ClinVar Variation:
2172798
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001353553.1:p.Arg63Leu
CA388307682
NM_001366624.2:c.188G>T