ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023782
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207725
ClinVar RCV Id:
RCV000189994
RCV001014296
RCV001083287
RCV003996887
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Arg702Leu
CA036218
NM_001318832.2:c.2105G>T