Canonical Allele Identifier: PA658661191
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn2183Lys
CA392335004
NM_000138.5:c.6549T>A
CA392335005
NM_000138.5:c.6549T>G