Allele Registry

Canonical Allele Identifier: PA658661334

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000521613

RCV000632019

RCV000663959

RCV001526931

ClinVar Variation:

449160

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asn2502Ile	CA392325997 NM_000138.5:c.7505A>T