Canonical Allele Identifier: PA658661334
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 449160
ClinVar RCV Id: RCV000663959 RCV000632019 RCV000521613 RCV001526931
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn2502Ile
CA392325997
NM_000138.5:c.7505A>T