ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827013930
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49595
ClinVar RCV Id:
RCV000042856
RCV000336828
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Phe697Ser
CA017895
NM_001318831.2:c.2090T>C