Canonical Allele Identifier: PA2825059214
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Phe1954Leu
CA392340042
NM_000138.5:c.5862C>G
CA392340043
NM_000138.5:c.5862C>A
CA392340047
NM_000138.5:c.5860T>C