ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829667344
Gene: CLN5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006484.2:p.Ser45Leu
CA388306721
NM_006493.4:c.134C>T