ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826704721
Gene: CLN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418137
ClinVar RCV Id:
RCV000487188
RCV000504756
RCV000559381
RCV001253588
RCV001075708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273033.1:p.Arg381Trp
CA7980640
NM_001286104.2:c.1141C>T