ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827008834
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535872
ClinVar RCV Id:
RCV000644090
RCV002343303
RCV003465405
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Pro1123Leu
CA276749978
NM_001318829.2:c.3368C>T