Canonical Allele Identifier: PA913191774
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Met223Ile
CA270013473
NM_000138.5:c.669G>A
CA392445921
NM_000138.5:c.669G>T
CA392445922
NM_000138.5:c.669G>C