Canonical Allele Identifier: PA658693992
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495660
ClinVar RCV Id: RCV000587931 RCV002530898 RCV004002414
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn2861Ile
CA392318457
NM_000138.5:c.8582A>T