Canonical Allele Identifier: PA215763
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 41690
ClinVar RCV Id: RCV000034602 RCV000054845 RCV000189811 RCV000319085 RCV000568490 RCV000761004 RCV001085737
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Ser487Cys
CA004868
NM_000368.5:c.1460C>G