Canonical Allele Identifier: PA645404109
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 228683
ClinVar RCV Id: RCV002494568 RCV003997738 RCV000216459 RCV001180053 RCV001296986
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr524Met
CA045042
NM_000138.5:c.1571C>T