Canonical Allele Identifier: PA658681261
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486640
ClinVar RCV Id: RCV000565969 RCV001859979
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Asp1535Glu
CA394304645
NM_000548.5:c.4605C>A
CA394304655
NM_000548.5:c.4605C>G