ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828093714
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
951136
ClinVar RCV Id:
RCV001222986
RCV003363184
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Arg1225Leu
CA394293592
NM_001363528.2:c.3674G>T