ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826707481
Gene: CLN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128775
ClinVar RCV Id:
RCV000116748
RCV000223968
RCV001081596
RCV001116001
RCV000274494
RCV002313869
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273039.1:p.His350Asn
CA288720
NM_001286110.2:c.1048C>A