ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827008860
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1420220
ClinVar RCV Id:
RCV001914110
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Asn1133del
CA915940354
NM_001318829.2:c.3398_3400del