ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825436609
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50182
ClinVar RCV Id:
RCV000043451
RCV000430436
RCV001705694
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Pro816Leu
CA017430
NM_001077183.3:c.2447C>T