Canonical Allele Identifier: PA2828409922
Gene: TSC2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Lys72Asn
CA394303591
NM_001370404.1:c.216A>C
CA394303594
NM_001370404.1:c.216A>T