ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827008040
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50077
ClinVar RCV Id:
RCV000043343
RCV000491444
RCV001852902
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Leu801Pro
CA017661
NM_001318829.2:c.2402T>C