Canonical Allele Identifier: PA319308
Gene: TSC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Gly999Arg
CA035493
NM_000368.5:c.2995G>A
CA035511
NM_000368.5:c.2995G>C