Canonical Allele Identifier: PA162570
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 135363
ClinVar RCV Id: RCV000122188 RCV000475364 RCV000562597 RCV001704038 RCV003153402 RCV003997359
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Ser457Arg
CA004748
NM_000368.5:c.1369A>C
CA375365986
NM_000368.5:c.1371T>G
CA375365987
NM_000368.5:c.1371T>A