Allele Registry

Canonical Allele Identifier: PA346333

Gene: FBN1 HGNC NCBI

ClinVar Allele:

178703

ClinVar RCV:

RCV000157222

RCV002415683

RCV002516355

ClinVar Variation:

180349

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Met1Val