ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828421907
Gene: TSC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Leu1749Phe
CA394316035
NM_001370405.1:c.5245C>T