Canonical Allele Identifier: PA1139675407
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1768Glu
CA392346541
NM_000138.5:c.5304T>A
CA392346544
NM_000138.5:c.5304T>G