Allele Registry

Canonical Allele Identifier: PA658692647

Gene: FBN1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Met2244Ile	CA057299 NM_000138.5:c.6732G>A CA392333198 NM_000138.5:c.6732G>T CA392333201 NM_000138.5:c.6732G>C