ClinGen Allele Registry
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Canonical Allele Identifier:
PA915987416
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466111
ClinVar RCV Id:
RCV000525091
RCV002316554
RCV003999215
RCV003476284
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Asn957Ser
CA375367854
NM_001162427.2:c.2870A>G