ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827015518
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000055424
RCV001230160
RCV003332112
ClinVar Variation:
65206
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Pro1253Ser
CA020513
NM_001318831.2:c.3757C>T