ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA109144
Gene: FBLN5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_006320.2:p.Ser227Pro
NM_006329.4:c.679T>C