Canonical Allele Identifier: PA645433820
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_000539.2:p.Asp1327Glu
CA10579897
NM_000548.5:c.3981C>G
CA394297611
NM_000548.5:c.3981C>A