Canonical Allele Identifier: PA2827016446
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49961
ClinVar RCV Id: RCV000043228 RCV003511996
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Arg1499Pro
CA022224
NM_001318831.2:c.4496G>C