ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659813
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000563196
RCV000796947
RCV002491142
ClinVar Variation:
486579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Glu961Gly
CA034889
NM_000368.5:c.2882A>G