ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827007552
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000566288
RCV000693999
RCV001840684
RCV004001151
ClinVar Variation:
486625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Gly627Val
CA035845
NM_001318829.2:c.1880G>T