ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827007495
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237974
ClinVar RCV Id:
RCV000231071
RCV000576038
RCV001080839
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Gly612Ser
CA035412
NM_001318829.2:c.1834G>A