Canonical Allele Identifier: PA658660334
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 451043
ClinVar RCV Id: RCV000589559 RCV001857995 RCV004003620
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro404Arg
CA392345612
NM_000138.5:c.1211C>G