Canonical Allele Identifier: PA303998
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199960
ClinVar RCV Id: RCV000181419 RCV000247580 RCV000289798 RCV000288772 RCV000347117 RCV000407488 RCV000407491 RCV000461203 RCV000377435 RCV000995347 RCV003224198
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly301Val
CA017847
NM_000138.5:c.902G>T