Canonical Allele Identifier: PA645405279
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237092
ClinVar RCV Id: RCV001379844
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1485Ser
CA10583246
NM_000138.5:c.4454G>C
CA392354258
NM_000138.5:c.4453T>A