ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825435449
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
59357
ClinVar RCV:
RCV000043464
RCV000482403
ClinVar Variation:
50195
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Leu466Arg
CA014742
NM_001077183.3:c.1397T>G