ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825575991
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238031
ClinVar RCV Id:
RCV000325835
RCV000567501
RCV000726912
RCV001079391
RCV004532850
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Glu1284Lys
CA049623
NM_001114382.3:c.3850G>A