ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580345233
Gene: CLN5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006484.1:p.Arg99Gln
CA388306804
NM_006493.2:c.296G>A