ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828421567
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64967
ClinVar RCV Id:
RCV000055170
RCV001071078
RCV000569125
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357334.1:p.Met1672Val
CA021857
NM_001370405.1:c.5014A>G