Canonical Allele Identifier: PA645413133
Gene: TSC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Asp273Glu
CA039098
NM_000368.5:c.819T>G
CA375369393
NM_000368.5:c.819T>A