Canonical Allele Identifier: PA1139674532
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 973318
ClinVar RCV Id: RCV001249769 RCV001879762
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1406Gly
CA392318140
NM_000138.5:c.4217A>G