ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829972218
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
50189
ClinVar RCV:
RCV000034667
RCV001084556
RCV002257374
RCV003996175
ClinVar Variation:
41750
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Arg308Gly
CA023120
NM_021055.3:c.922C>G