ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827010284
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
49912
ClinVar RCV Id:
RCV000043179
RCV000189943
RCV000512881
RCV000571102
RCV001082733
RCV002222154
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg1591Cys
CA021761
NM_001318829.2:c.4771C>T