Canonical Allele Identifier: PA2827002099
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Val647Leu
CA394274596
NM_001318827.2:c.1939G>C
CA394274597
NM_001318827.2:c.1939G>T
CA658658370
NM_001318827.2:c.1938_1939delinsTC