ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023000
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405973
ClinVar RCV Id:
RCV000464873
RCV000569892
RCV001721496
RCV004533160
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ser852Phe
CA045537
NM_001318831.2:c.2555C>T