ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825919114
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000563196
RCV000796947
RCV002491142
ClinVar Variation:
486579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Glu960Gly
CA034889
NM_001162426.2:c.2879A>G