ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825954946
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000055032
RCV002513716
RCV003480047
ClinVar Variation:
64837
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Phe107Ser
CA007609
NM_001162427.2:c.320T>C