Canonical Allele Identifier: PA2573168503
Gene: TSC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Val1127Leu
CA375366493
NM_000368.5:c.3379G>T
CA375366494
NM_000368.5:c.3379G>C