ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827016349
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406062
ClinVar RCV Id:
RCV000658430
RCV001086881
RCV002257695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Met1477Val
CA054307
NM_001318831.2:c.4429A>G