ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825438646
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65206
ClinVar RCV Id:
RCV000055424
RCV001230160
RCV003332112
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Pro1430Ser
CA020513
NM_001077183.3:c.4288C>T