Canonical Allele Identifier: PA2825058243
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2949946
ClinVar RCV Id: RCV003807304
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1263Phe
CA392323827
NM_000138.5:c.3788G>T