Canonical Allele Identifier: PA658804915
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535974
ClinVar RCV Id: RCV000644222 RCV001017006 RCV004533366 RCV004004017
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Val339Ile
CA276776626
NM_000548.5:c.1015G>A