ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827015448
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535987
ClinVar RCV Id:
RCV000644237
RCV002051724
RCV002331192
RCV004004022
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Asp1234Asn
CA394302242
NM_001318831.2:c.3700G>A