Canonical Allele Identifier: PA1139674575
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 920374
ClinVar RCV Id: RCV001179091 RCV001308085
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1426Ala
CA052404
NM_000138.5:c.4277G>C