ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825575647
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_001107854.1:p.Ala1164Val
CA019211
NM_001114382.3:c.3491C>T