ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827007071
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187099
ClinVar RCV Id:
RCV000166788
RCV000536283
RCV003995532
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ile481Val
CA015168
NM_001318829.2:c.1441A>G