ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580289777
Gene: THBS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003237.2:p.Pro576Ser
CA391669578
NM_003246.4:c.1726C>T