ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827002592
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405987
ClinVar RCV Id:
RCV000458453
RCV002451086
RCV004000686
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Val788Leu
CA039144
NM_001318827.2:c.2362G>C