ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573176541
Gene: CLN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1392242
ClinVar RCV Id:
RCV001911207
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035897.1:p.Ala245Glu
CA395344820
NM_001042432.2:c.734C>A