ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827012479
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
58323
ClinVar RCV:
RCV000042417
RCV001056606
RCV003162356
ClinVar Variation:
49161
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Leu293Val
CA014935
NM_001318831.2:c.877C>G