Canonical Allele Identifier: PA2825056960
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.His219Gln
CA057013
NM_000138.5:c.657C>A
CA057019
NM_000138.5:c.657C>G