ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827000401
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207702
ClinVar RCV Id:
RCV000189961
RCV000219746
RCV000698793
RCV003996877
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Glu156Lys
CA055433
NM_001318827.2:c.466G>A