Canonical Allele Identifier: PA2828421765
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486634
ClinVar RCV Id: RCV000569459 RCV000702221 RCV001532311
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Pro1719Ser
CA054989
NM_001370405.1:c.5155C>T