ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828089750
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161398
ClinVar RCV Id:
RCV000148918
RCV000226143
RCV000571093
RCV001704075
RCV004544347
RCV003153433
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Asn56Ser
CA015434
NM_001363528.2:c.167A>G