ClinGen Allele Registry
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Canonical Allele Identifier:
PA916023195
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237966
ClinVar RCV Id:
RCV000243799
RCV000726243
RCV001011846
RCV001086583
RCV003998803
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Met61Val
CA030828
NM_001318832.2:c.181A>G