ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023390
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405972
ClinVar RCV Id:
RCV000457917
RCV001017372
RCV002244933
RCV003463864
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Leu383Pro
CA16614653
NM_001318832.2:c.1148T>C