Canonical Allele Identifier: PA2828418438
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207669
ClinVar RCV Id: RCV000814544 RCV002444770 RCV003153465
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.His763Tyr
CA038145
NM_001370405.1:c.2287C>T