ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827010481
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207762
ClinVar RCV Id:
RCV000561869
RCV000713943
RCV001083713
RCV003996897
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Glu1641Lys
CA054884
NM_001318829.2:c.4921G>A