Allele Registry

Canonical Allele Identifier: PA1139673570

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV001234917

ClinVar Variation:

961251

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg954Pro	CA392330206 NM_000138.5:c.2861G>C