ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828415072
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536102
ClinVar RCV Id:
RCV000644406
RCV001023169
RCV004004050
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Ala1578Thr
CA052965
NM_001370404.1:c.4732G>A