Canonical Allele Identifier: PA2580345218
Gene: CLN5 HGNC NCBI
ClinVar RCV:
RCV002303461
ClinVar Variation:
1716397
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006484.1:p.Pro34Gln
CA388305995
NM_006493.2:c.101C>A