ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826704746
Gene: CLN3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001591922
RCV001866162
ClinVar Variation:
1213979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273033.1:p.Ser399Leu
CA7980632
NM_001286104.2:c.1196C>T