Canonical Allele Identifier: PA282203
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42346
ClinVar RCV Id: RCV000035185
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1339Ser
CA014696
NM_000138.5:c.4016G>C
CA392320556
NM_000138.5:c.4015T>A