Canonical Allele Identifier: PA915959581
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1134Arg
CA269531205
NM_000138.5:c.3400G>A
CA392326466
NM_000138.5:c.3400G>C