Canonical Allele Identifier: PA658661245
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457252
ClinVar RCV Id: RCV000527434 RCV000590209 RCV002245996
ClinVar Variation Id: 549370
ClinVar RCV Id: RCV000663904
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn2267Lys
CA392332416
NM_000138.5:c.6801C>G
CA392332418
NM_000138.5:c.6801C>A