ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826704992
Gene: CLN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
944154
ClinVar RCV Id:
RCV001214493
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273034.1:p.Glu144Ala
CA395344827
NM_001286105.2:c.431A>C