ClinGen Allele Registry
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Canonical Allele Identifier:
PA915987175
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
417731
ClinVar RCV Id:
RCV000477710
RCV000573120
RCV000695216
RCV001721544
RCV001526808
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Arg22Trp
CA038317
NM_001162427.2:c.64C>T