Canonical Allele Identifier: PA249443
Gene: TSC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Lys587Arg
CA005376
NM_000368.5:c.1760A>G
CA3060570603
NM_000368.5:c.1758_1760delinsCAG