Canonical Allele Identifier: PA281842
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36112
ClinVar RCV Id: RCV000029774
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.His2410Pro
CA017104
NM_000138.5:c.7229A>C