Canonical Allele Identifier: PA2825057958
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Met1034Ile
CA392328206
NM_000138.5:c.3102G>T
CA392328209
NM_000138.5:c.3102G>C
CA392328211
NM_000138.5:c.3102G>A