Canonical Allele Identifier: PA2573163104
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1480110
ClinVar RCV Id: RCV002021981
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1046His
CA392328126
NM_000138.5:c.3136A>C