ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825919279
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000525091
RCV002316554
RCV003476284
RCV003999215
ClinVar Variation:
466111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Asn1007Ser
CA375367854
NM_001162426.2:c.3020A>G