ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827013108
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_001305760.1:p.Gly461Ser
CA035412
NM_001318831.2:c.1381G>A