Canonical Allele Identifier: PA241284
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161245
ClinVar RCV Id: RCV000148501 RCV000181402 RCV000604732 RCV000587403 RCV000545272
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr20Cys
CA016208
NM_000138.5:c.59A>G