ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827012370
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237964
ClinVar RCV Id:
RCV000231211
RCV000765262
RCV001011245
RCV001589172
RCV003998801
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Arg258Gln
CA10583294
NM_001318831.2:c.773G>A