ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA274760
Gene: CLN5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006484.1:p.Arg112Cys
CA274758
NM_006493.2:c.334C>T