ClinGen Allele Registry
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Canonical Allele Identifier:
PA916022873
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207700
ClinVar RCV Id:
RCV000189958
RCV000229518
RCV002327021
RCV003996876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Lys95Arg
CA050850
NM_001318829.2:c.284A>G