Canonical Allele Identifier: PA2825184484
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1365142
ClinVar RCV Id: RCV001929717
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Met1030Ile
CA394284670
NM_000548.5:c.3090G>A
CA394284672
NM_000548.5:c.3090G>C
CA394284674
NM_000548.5:c.3090G>T