ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829983097
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_066399.2:p.Arg1663Cys
CA021761
NM_021055.3:c.4987C>T