Canonical Allele Identifier: PA2573061496
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu2197Asp
CA392334733
NM_000138.5:c.6591G>T
CA392334734
NM_000138.5:c.6591G>C