Canonical Allele Identifier: PA1139671438
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly70Arg
CA392448404
NM_000138.5:c.208G>C
CA392448406
NM_000138.5:c.208G>A