Canonical Allele Identifier: PA1139674443
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 918578
ClinVar RCV Id: RCV001176239
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1332Lys
CA392320596
NM_000138.5:c.3996C>G
CA392320597
NM_000138.5:c.3996C>A