Allele Registry

Canonical Allele Identifier: PA658800641

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000632007

RCV003148810

ClinVar Variation:

527204

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Met1204Val	CA269527212 NM_000138.5:c.3610A>G