ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825438440
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
388436
ClinVar RCV Id:
RCV000441035
RCV001086097
RCV001119330
RCV002328977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Pro1374Ser
CA16607171
NM_001077183.3:c.4120C>T