Canonical Allele Identifier: PA1139675447
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1796Val
CA392345948
NM_000138.5:c.5387G>T
CA2580089600
NM_000138.5:c.5387_5388delinsTT