ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645433067
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406074
ClinVar RCV Id:
RCV000470486
RCV002323694
RCV004000713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ala1053Val
CA044608
NM_000548.5:c.3158C>T