ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499263629
Gene: THBS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003237.2:p.Glu283Lys
CA7471745
NM_003246.4:c.847G>A