ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827009491
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468083
ClinVar RCV Id:
RCV000550016
RCV001569152
RCV002330903
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Pro1335Ala
CA050903
NM_001318829.2:c.4003C>G