Canonical Allele Identifier: PA2827016340
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65216
ClinVar RCV Id: RCV000055435 RCV000468508 RCV000572428 RCV003162430 RCV003996480
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Ala1475Thr
CA021901
NM_001318831.2:c.4423G>A