Canonical Allele Identifier: PA2827000669
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468187
ClinVar RCV Id: RCV000538015 RCV001779000 RCV002431636 RCV003999342
ClinVar Variation Id: 846454
ClinVar RCV Id: RCV001049757
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Met239Ile
CA394313332
NM_001318827.2:c.717G>A
CA394313336
NM_001318827.2:c.717G>C
CA394313340
NM_001318827.2:c.717G>T