ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827019912
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000226937
RCV000422566
RCV002315686
RCV003390985
RCV003998828
ClinVar Variation:
238048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Ser1410Leu
CA051016
NM_001318832.2:c.4229C>T