Canonical Allele Identifier: PA1139678096
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 921035
ClinVar RCV Id: RCV001180178
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr2849Asn
CA392318584
NM_000138.5:c.8545T>A