ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA313857
Gene: CLN5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006484.1:p.Gly17Arg
CA313855
NM_006493.2:c.49G>C
CA7007079
NM_006493.2:c.49G>A