Canonical Allele Identifier: PA2825182121
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1447549
ClinVar RCV Id: RCV002011925
ClinVar Variation Id: 2564679
ClinVar RCV Id: RCV003297111
ClinVar Variation Id: 2893449
ClinVar RCV Id: RCV003627202
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ser660Arg
CA394274362
NM_000548.5:c.1978A>C
CA394274370
NM_000548.5:c.1980C>A
CA394274372
NM_000548.5:c.1980C>G