ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827010522
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
466066
ClinVar RCV:
RCV000547303
RCV000570898
RCV003403303
ClinVar Variation:
468155
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Leu1652Val
CA054998
NM_001318829.2:c.4954C>G