ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827014214
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000042500
RCV000201071
ClinVar Variation:
49241
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Arg788Pro
CA018497
NM_001318831.2:c.2363G>C