ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826707033
Gene: CLN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452304
ClinVar RCV Id:
RCV000523900
RCV002527641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273039.1:p.Ala182Val
CA7980843
NM_001286110.2:c.545C>T