Canonical Allele Identifier: PA2825186083
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 951136
ClinVar RCV Id: RCV001222986 RCV003363184
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg1268Leu
CA394293592
NM_000548.5:c.3803G>T