ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825052888
Gene: CLN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1389698
ClinVar RCV Id:
RCV001889354
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000077.1:p.Gln251Pro
CA7980835
NM_000086.2:c.752A>C