Canonical Allele Identifier: PA3076295563
Gene: TSC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Leu73Phe
CA375374857
NM_000368.5:c.219G>T
CA375374858
NM_000368.5:c.219G>C