ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645433838
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238040
ClinVar RCV Id:
RCV000230897
RCV003165606
RCV003998826
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Glu1351Lys
CA10583329
NM_000548.5:c.4051G>A