ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA264399
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64897
ClinVar RCV Id:
RCV000055098
RCV000491308
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Leu1061Pro
CA018665
NM_000548.5:c.3182T>C