Canonical Allele Identifier: PA281856
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly2627Arg
CA017435
NM_000138.5:c.7879G>A
CA16042933
NM_000138.5:c.7879G>C