ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915987356
Gene: TSC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Gly81Ala
CA200901597
NM_001162427.2:c.242G>C