ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580345143
Gene: FBLN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006478.3:p.Glu102Lys
CA325045705
NM_006487.3:c.304G>A