ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829978177
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
76241
ClinVar RCV:
RCV000055531
RCV001388145
ClinVar Variation:
65309
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Arg1001Lys
CA018596
NM_021055.3:c.3002G>A