Canonical Allele Identifier: PA915962117
Gene: TSC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Asn665Lys
CA030359
NM_000368.5:c.1995C>A
CA375362220
NM_000368.5:c.1995C>G