Canonical Allele Identifier: PA1139674954
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 915679
ClinVar RCV Id: RCV001170770
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1546Tyr
CA392353079
NM_000138.5:c.4636G>T