ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827019301
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
951136
ClinVar RCV Id:
RCV001222986
RCV003363184
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Arg1235Leu
CA394293592
NM_001318832.2:c.3704G>T