Canonical Allele Identifier: PA1139674823
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 929135
ClinVar RCV Id: RCV001194174
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Phe1517Ser
CA392353429
NM_000138.5:c.4550T>C