ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827007565
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535981
ClinVar RCV Id:
RCV000644230
RCV001014160
RCV002282289
RCV003459538
RCV004004020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg631Leu
CA394274563
NM_001318829.2:c.1892G>T