ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826703974
Gene: CLN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205088
ClinVar RCV Id:
RCV000345320
RCV000432571
RCV001119063
RCV001218859
RCV002314697
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273033.1:p.Val116Ile
CA313703
NM_001286104.2:c.346G>A