Canonical Allele Identifier: PA3071254675
Gene: FBN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Cys375Ser
CA3395879
NM_001999.4:c.1123T>A
CA360750969
NM_001999.4:c.1124G>C