ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829426681
Gene: THBS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003237.2:p.Arg517His
CA7471970
NM_003246.4:c.1550G>A