ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826705247
Gene: CLN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1020912
ClinVar RCV Id:
RCV001320573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273034.1:p.Arg241Cys
CA7980717
NM_001286105.2:c.721C>T