Canonical Allele Identifier: PA262683
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49464
ClinVar RCV Id: RCV000042724 RCV001508405 RCV001852888 RCV003162357
ClinVar Variation Id: 2728549
ClinVar RCV Id: RCV003513445
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Gly1595Arg
CA021000
NM_000548.5:c.4783G>A
CA394307955
NM_000548.5:c.4783G>C