ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829980929
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468077
ClinVar RCV Id:
RCV000547245
RCV002330900
RCV003999311
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ser1388Leu
CA050780
NM_021055.3:c.4163C>T