ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829978599
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141482
ClinVar RCV Id:
RCV000130032
RCV001087672
RCV000836828
RCV003997543
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ala1065Val
CA018885
NM_021055.3:c.3194C>T