Canonical Allele Identifier: PA2741887780
Gene: FBN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Asp1866Glu
CA3394661
NM_001999.4:c.5598C>G
CA360740484
NM_001999.4:c.5598C>A