ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828059403
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000366220
RCV001085318
RCV002446526
RCV003995780
ClinVar Variation:
287541
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Arg195Gln
CA039900
NM_001362177.1:c.584G>A