ClinGen Allele Registry
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Canonical Allele Identifier:
PA915986788
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237726
ClinVar RCV Id:
RCV000230751
RCV001027171
RCV003237786
RCV003998780
RCV003475059
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Ser270Leu
CA10582634
NM_001162426.2:c.809C>T