Canonical Allele Identifier: PA1139675003
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Lys1491Asn
CA394302529
NM_000548.5:c.4473A>C
CA394302530
NM_000548.5:c.4473A>T