Canonical Allele Identifier: PA282189
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42327
ClinVar RCV Id: RCV000035163 RCV000531789 RCV001564104
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1055Tyr
CA013837
NM_000138.5:c.3164G>A