ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827013126
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1784028
ClinVar RCV Id:
RCV002416965
RCV003100991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Pro465Leu
CA394274421
NM_001318831.2:c.1394C>T