ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829976073
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000644106
RCV000765269
RCV001014943
RCV001580527
ClinVar Variation:
535887
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Arg751Gln
CA276740000
NM_021055.3:c.2252G>A