Canonical Allele Identifier: PA2827017202
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207769
ClinVar RCV Id: RCV000190052 RCV000227699 RCV001026051 RCV004537600
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Pro248Leu
CA056182
NM_001318832.2:c.743C>T