Canonical Allele Identifier: PA2828414021
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 231318
ClinVar RCV Id: RCV000216974 RCV000644390
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Asp1283Glu
CA10579897
NM_001370404.1:c.3849C>G
CA394297611
NM_001370404.1:c.3849C>A