Allele Registry

Canonical Allele Identifier: PA303988

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar RCV:

RCV000181412

RCV000267742

RCV000291882

RCV000295523

RCV000325046

RCV000352752

RCV000382017

RCV000387427

RCV000458019

RCV003390904

ClinVar Variation:

199954

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Lys2729Gln	CA017603 NM_000138.5:c.8185A>C