ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825438207
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49556
ClinVar RCV Id:
RCV000042816
RCV000565844
RCV000726579
RCV001082851
RCV004541222
RCV003488361
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Arg1302Trp
CA019949
NM_001077183.3:c.3904C>T