ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825577758
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000520770
RCV001086979
RCV002347871
RCV003998839
ClinVar Variation:
238085
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Pro1758Leu
CA10583347
NM_001114382.3:c.5273C>T