Canonical Allele Identifier: PA2828093497
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49770
ClinVar RCV Id: RCV000043035 RCV000190021 RCV000190880 RCV002453340 RCV002490595 RCV004537174
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Arg1157Trp
CA019313
NM_001363528.2:c.3469C>T