Canonical Allele Identifier: PA2825435922
Gene: TSC2 HGNC NCBI
ClinVar RCV:
RCV000532879
ClinVar Variation:
467902
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Gln613His
CA394273020
NM_001077183.3:c.1839G>C
CA394273021
NM_001077183.3:c.1839G>T