ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827014895
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135383
ClinVar RCV Id:
RCV000122228
RCV000644076
RCV001556535
RCV003298144
RCV003460863
RCV003997365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Glu1077Val
CA019757
NM_001318831.2:c.3230A>T