ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825574327
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
76154
ClinVar RCV:
RCV000055442
RCV002051805
ClinVar Variation:
65222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Leu733Val
CA016903
NM_001114382.3:c.2197C>G