Canonical Allele Identifier: PA2573163029
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys887Ser
CA392332012
NM_000138.5:c.2660G>C
CA392332035
NM_000138.5:c.2659T>A