Canonical Allele Identifier: PA658689777
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495600
ClinVar RCV Id: RCV000586738
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys129Ser
CA392446557
NM_000138.5:c.386G>C
CA392446560
NM_000138.5:c.385T>A