ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116347
Gene: CLN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3556
ClinVar RCV Id:
RCV000003735
RCV000055839
RCV000811923
RCV001074385
RCV001270479
RCV002512720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035897.1:p.Glu295Lys
CA116344
NM_001042432.2:c.883G>A