ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827007445
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467907
ClinVar RCV Id:
RCV000576099
RCV000559856
RCV001558235
RCV003999261
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Met600Val
CA034654
NM_001318829.2:c.1798A>G