Canonical Allele Identifier: PA645404947
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 387797
ClinVar RCV Id: RCV000430505
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1212Ser
CA16606967
NM_000138.5:c.3635G>C
CA392324552
NM_000138.5:c.3634T>A