ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645432018
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405944
ClinVar RCV Id:
RCV000471506
RCV001012244
RCV001564370
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ser526Asn
CA031083
NM_000548.5:c.1577G>A