Canonical Allele Identifier: PA304338
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly234Cys
CA016931
NM_000138.5:c.700_702delinsTGT
CA392445856
NM_000138.5:c.700G>T