Canonical Allele Identifier: PA645433107
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405964
ClinVar RCV Id: RCV000469143 RCV000574231
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg1078Trp
CA044888
NM_000548.5:c.3232C>T
CA645573330
NM_000548.5:c.3231_3232delinsTT