Canonical Allele Identifier: PA2573162925
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys711Ser
CA392336319
NM_000138.5:c.2132G>C
CA392336330
NM_000138.5:c.2131T>A