ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827008741
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468020
ClinVar RCV Id:
RCV000534200
RCV001574195
RCV002258956
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Pro1084Ser
CA394289363
NM_001318829.2:c.3250C>T