ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645432454
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000230681
RCV002261015
RCV002315685
RCV003998813
ClinVar Variation:
237986
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Ser758Cys
CA10583307
NM_000548.5:c.2273C>G