Allele Registry

Canonical Allele Identifier: PA282255

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000035232

ClinVar Variation:

42390

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asn1907Lys	CA015998 NM_000138.5:c.5721C>G CA392341284 NM_000138.5:c.5721C>A