ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829983849
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468155
ClinVar RCV Id:
RCV000547303
RCV000570898
RCV003403303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Leu1724Val
CA054998
NM_021055.3:c.5170C>G