ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827013385
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055442
RCV002051805
ClinVar Variation:
65222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Leu533Val
CA016903
NM_001318831.2:c.1597C>G