Canonical Allele Identifier: PA2828418075
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1784028
ClinVar RCV Id: RCV002416965 RCV003100991
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Pro665Leu
CA394274421
NM_001370405.1:c.1994C>T