ClinGen Allele Registry
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Canonical Allele Identifier:
PA916023088
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50090
ClinVar RCV Id:
RCV000043356
RCV000228930
RCV000567364
RCV001727553
RCV001699111
RCV004537179
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Ala920Val
CA019211
NM_001318831.2:c.2759C>T