ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645432481
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374680
ClinVar RCV Id:
RCV000415953
RCV001015130
RCV001079272
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Arg786Cys
CA038725
NM_000548.5:c.2356C>T