ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826706037
Gene: CLN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193615
ClinVar RCV Id:
RCV000724529
RCV001117458
RCV001245519
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273038.1:p.Pro174Ser
CA239163
NM_001286109.2:c.520C>T