Canonical Allele Identifier: PA2827003370
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406072
ClinVar RCV Id: RCV000456897 RCV001020136 RCV001618706 RCV004533165
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Arg1047Trp
CA046408
NM_001318827.2:c.3139C>T