ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825577571
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406050
ClinVar RCV Id:
RCV000473435
RCV001023737
RCV001546269
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Pro1714Leu
CA054450
NM_001114382.3:c.5141C>T