ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825439213
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
76147
ClinVar RCV:
RCV000055434
RCV000989440
ClinVar Variation:
65215
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Ser1586Pro
CA021390
NM_001077183.3:c.4756T>C