Canonical Allele Identifier: PA2828095488
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318338
ClinVar RCV Id: RCV000340010 RCV000457441 RCV001545216 RCV002298569 RCV002255364 RCV004537798
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Pro1704Ser
CA055015
NM_001363528.2:c.5110C>T