ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA215774
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41699
ClinVar RCV Id:
RCV000034612
RCV001080486
RCV001017939
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000359.1:p.Arg284His
CA008318
NM_000368.5:c.851G>A