ClinGen Allele Registry
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Canonical Allele Identifier:
PA915986820
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
50138
ClinVar RCV:
RCV000034612
RCV001017939
RCV001080486
ClinVar Variation:
41699
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Arg284His
CA008318
NM_001162426.2:c.851G>A