Canonical Allele Identifier: PA187201
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 41700
ClinVar RCV Id: RCV000034613 RCV000054997 RCV000054992 RCV000054853 RCV000118695 RCV000162954 RCV000355920 RCV000576638 RCV001269358
ClinVar Variation Id: 759562
ClinVar RCV Id: RCV001451660 RCV002382139
ClinVar Variation Id: 1079956
ClinVar RCV Id: RCV001395453
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Met322Thr
CA008447
NM_000368.5:c.965T>C
CA915947255
NM_000368.5:c.965_966delinsCT
CA2499219723
NM_000368.5:c.965_966delinsCA