Canonical Allele Identifier: PA281682
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1013Arg
CA013681
NM_000138.5:c.3037G>A
CA013690
NM_000138.5:c.3037G>C