Canonical Allele Identifier: PA2828421602
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1477932
ClinVar RCV Id: RCV001973951 RCV002335004 RCV004011038
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ser1681Arg
CA394314102
NM_001370405.1:c.5041A>C
CA394314115
NM_001370405.1:c.5043C>G
CA394314116
NM_001370405.1:c.5043C>A