ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829981642
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207755
ClinVar RCV Id:
RCV000475369
RCV000574084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Ser1483Tyr
CA319534
NM_021055.3:c.4448C>A