ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825439652
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535888
ClinVar RCV Id:
RCV000644107
RCV001568107
RCV002343304
RCV004003995
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Pro1699Leu
CA276759930
NM_001077183.3:c.5096C>T