ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580192297
Gene: CLN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2131831
ClinVar RCV Id:
RCV003036446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273033.1:p.Asn48Ile
CA395346548
NM_001286104.2:c.143A>T