Canonical Allele Identifier: PA2827019792
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468077
ClinVar RCV Id: RCV000547245 RCV002330900 RCV003999311
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Ser1375Leu
CA050780
NM_001318832.2:c.4124C>T