Canonical Allele Identifier: PA302988
Gene: CLN5 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006484.1:p.Asn242Lys
CA302986
NM_006493.2:c.726C>A
CA388311204
NM_006493.2:c.726C>G