Canonical Allele Identifier: PA2828091618
Gene: TSC2 HGNC NCBI
ClinVar RCV:
RCV000227968
ClinVar Variation:
237972
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ala614Pro
CA10583299
NM_001363528.2:c.1840G>C