Canonical Allele Identifier: PA319262
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207620
ClinVar RCV Id: RCV000225953 RCV000341814 RCV001705062 RCV002257479 RCV003416119
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Ser1041Arg
CA035953
NM_000368.5:c.3123C>G
CA375367328
NM_000368.5:c.3123C>A
CA375367339
NM_000368.5:c.3121A>C