ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828093256
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406099
ClinVar RCV Id:
RCV000473877
RCV001020177
RCV000509526
RCV001584141
RCV004000718
RCV003463869
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Met1088Val
CA16614772
NM_001363528.2:c.3262A>G