Canonical Allele Identifier: PA282239
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys166Ser
CA015519
NM_000138.5:c.497G>C
CA392446313
NM_000138.5:c.496T>A