Canonical Allele Identifier: PA304146
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 155792
ClinVar RCV Id: RCV000143892 RCV000181517 RCV000381005 RCV000397810 RCV000298555 RCV000291329 RCV000302074 RCV000346355 RCV000405079 RCV000818523
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser1438Asn
CA014944
NM_000138.5:c.4313G>A