Canonical Allele Identifier: PA2825155742
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1019115
ClinVar RCV Id: RCV001318506 RCV002366176
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Ser208Arg
CA038264
NM_000368.5:c.622A>C
CA375372403
NM_000368.5:c.624T>G
CA375372405
NM_000368.5:c.624T>A