ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827019414
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65083
ClinVar RCV Id:
RCV000055293
RCV000163902
RCV000189923
RCV000476957
RCV003153341
RCV003477459
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ala1267Val
CA019767
NM_001318832.2:c.3800C>T