Canonical Allele Identifier: PA915959545
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1068Ser
CA392327833
NM_000138.5:c.3203G>C
CA392327838
NM_000138.5:c.3202T>A