Canonical Allele Identifier: PA3081917256
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Val2234Leu
CA392333362
NM_000138.5:c.6700G>T
CA392333363
NM_000138.5:c.6700G>C