ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828419118
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406089
ClinVar RCV Id:
RCV000475335
RCV000761103
RCV002436402
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Asp970Gly
CA16615087
NM_001370405.1:c.2909A>G