Canonical Allele Identifier: PA645404226
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly626Arg
CA10587855
NM_000138.5:c.1876G>A
CA392339125
NM_000138.5:c.1876G>C
CA916082406
NM_000138.5:c.1875_1876delinsCA