Canonical Allele Identifier: PA2827019299
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 452681
ClinVar RCV Id: RCV000521160 RCV000644179 RCV004023617
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Pro1234Ser
CA048474
NM_001318832.2:c.3700C>T