ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828417955
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207723
ClinVar RCV Id:
RCV000557012
RCV000570781
RCV001705070
RCV003996886
RCV003155114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Arg639Trp
CA034455
NM_001370405.1:c.1915C>T