ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829983632
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372688
ClinVar RCV Id:
RCV001023775
RCV000689057
RCV001705542
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Arg1702His
CA054529
NM_021055.3:c.5105G>A