Canonical Allele Identifier: PA131257
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42439
ClinVar RCV Id: RCV000035284 RCV000181626 RCV000280634 RCV000284299 RCV000338124 RCV000397502 RCV000372736 RCV000400824 RCV001213083
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly2691Ser
CA017540
NM_000138.5:c.8071G>A