ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916023326
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238099
ClinVar RCV Id:
RCV000226007
RCV001019379
RCV001770191
RCV003998846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Pro327Gln
CA056703
NM_001318832.2:c.980C>A