ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827005736
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41748
ClinVar RCV Id:
RCV000034665
RCV000054862
RCV000055245
RCV000148917
RCV000163344
RCV000178483
RCV000989443
RCV001197128
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Arg1692Cys
CA022447
NM_001318827.2:c.5074C>T