Canonical Allele Identifier: PA2825060491
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2952534
ClinVar RCV Id: RCV003815685
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr2853His
CA392318525
NM_000138.5:c.8557T>C