ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828061071
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237715
ClinVar RCV Id:
RCV000229256
RCV000563268
RCV001169542
RCV001568881
RCV003998777
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Asp881Val
CA035584
NM_001362177.1:c.2642A>T