ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829667597
Gene: CLN5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006484.2:p.Pro333Ser
CA7007281
NM_006493.4:c.997C>T