Canonical Allele Identifier: PA304296
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200123
ClinVar RCV Id: RCV000181620 RCV000586564 RCV000663995 RCV000770653 RCV002515309
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr2639Cys
CA017463
NM_000138.5:c.7916A>G