ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826707016
Gene: CLN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444366
ClinVar RCV Id:
RCV000513241
RCV001199670
RCV001857319
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273039.1:p.Ser172Gly
CA395345175
NM_001286110.2:c.514A>G