Canonical Allele Identifier: PA282272
Gene: FBN1 HGNC NCBI
ClinVar RCV:
RCV000035248
ClinVar Variation:
42405
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2210Trp
CA016590
NM_000138.5:c.6630T>G