ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827006960
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406025
ClinVar RCV Id:
RCV000477110
RCV001011767
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ser442Leu
CA030754
NM_001318829.2:c.1325C>T