ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825955116
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
838116
ClinVar RCV Id:
RCV001039602
RCV003307817
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Glu163Gly
CA375372319
NM_001162427.2:c.488A>G