Canonical Allele Identifier: PA282163
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42296
ClinVar RCV Id: RCV000035130 RCV000755193 RCV000757273 RCV000777703 RCV000781355 RCV001046446
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg62His
CA012618
NM_000138.5:c.185G>A