Canonical Allele Identifier: PA2828413688
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1403189
ClinVar RCV Id: RCV001908923
ClinVar Variation Id: 3031576
ClinVar RCV Id: RCV004534492
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Met1182Ile
CA394292285
NM_001370404.1:c.3546G>A
CA394292288
NM_001370404.1:c.3546G>C
CA394292292
NM_001370404.1:c.3546G>T