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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Phe2322Leu
CA057619
NM_000138.5:c.6964T>C
CA392330541
NM_000138.5:c.6966T>G
CA392330543
NM_000138.5:c.6966T>A