Canonical Allele Identifier: PA2499228906
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Met99Ile
CA392446992
NM_000138.5:c.297G>T
CA392446994
NM_000138.5:c.297G>C
CA392446996
NM_000138.5:c.297G>A