ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827007600
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
184386
ClinVar RCV Id:
RCV000163633
RCV000189993
RCV000230256
RCV002053949
RCV003995264
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg642Cys
CA016553
NM_001318829.2:c.1924C>T