ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827013756
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64921
ClinVar RCV Id:
RCV000055123
RCV001253278
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Leu644Pro
CA017563
NM_001318831.2:c.1931T>C