Canonical Allele Identifier: PA2825057388
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3072797
ClinVar RCV Id: RCV004013819
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro600Ser
CA392340302
NM_000138.5:c.1798C>T