ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827012622
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64976
ClinVar RCV Id:
RCV000055179
RCV000231616
RCV000431368
RCV000564084
RCV001703957
RCV004537240
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Arg337Cys
CA015300
NM_001318831.2:c.1009C>T