ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825437669
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207678
ClinVar RCV Id:
RCV000469044
RCV001020619
RCV001721231
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Leu1145Val
CA319374
NM_001077183.3:c.3433C>G