Canonical Allele Identifier: PA353657
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 222604
ClinVar RCV Id: RCV000208295 RCV000818296
ClinVar Variation Id: 1453863
ClinVar RCV Id: RCV001960512
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1444Ser
CA353655
NM_000138.5:c.4330T>A
CA392317541
NM_000138.5:c.4331G>C