Canonical Allele Identifier: PA658660609
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1011Arg
CA392328981
NM_000138.5:c.3031G>C
CA392328982
NM_000138.5:c.3031G>A