Allele Registry

Canonical Allele Identifier: PA658693087

Gene: FBN1 HGNC NCBI

ClinVar Allele:

487544

ClinVar RCV:

RCV000590273

RCV000793151

ClinVar Variation:

495645

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asn2461Lys	CA058485 NM_000138.5:c.7383C>G CA392327862 NM_000138.5:c.7383C>A