Canonical Allele Identifier: PA2825059214
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2950335
ClinVar RCV Id: RCV003807693
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Phe1954Leu
CA392340042
NM_000138.5:c.5862C>G
CA392340043
NM_000138.5:c.5862C>A
CA392340047
NM_000138.5:c.5860T>C