ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828059516
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64817
ClinVar RCV Id:
RCV000055009
RCV000217275
RCV000642024
RCV000725515
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Pro241Ser
CA004402
NM_001362177.1:c.721C>T