ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829972591
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000230966
RCV000568549
RCV001118951
RCV001721235
ClinVar Variation:
207711
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Glu366Lys
CA028150
NM_021055.3:c.1096G>A