ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827015646
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
573348
ClinVar RCV Id:
RCV000694999
RCV001022741
RCV003999632
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ser1286Leu
CA394304471
NM_001318831.2:c.3857C>T