Canonical Allele Identifier: PA645405872
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Lys2088Asn
CA10636147
NM_000138.5:c.6264G>C
CA392336993
NM_000138.5:c.6264G>T