ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828091245
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189982
RCV001012067
RCV001083877
ClinVar Variation:
207717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Leu512Val
CA031024
NM_001363528.2:c.1534C>G