ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825052550
Gene: CLN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418136
ClinVar RCV Id:
RCV000632734
RCV001729611
RCV001721545
RCV002455909
RCV003902720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000077.1:p.Thr80Ser
CA7981009
NM_000086.2:c.238A>T