Canonical Allele Identifier: PA2499240244
Gene: TSC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.His240Gln
CA038590
NM_001162426.2:c.720T>G
CA375371265
NM_001162426.2:c.720T>A