Canonical Allele Identifier: PA645405023
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 255295
ClinVar RCV Id: RCV000249503 RCV001191554 RCV001347798 RCV003989507
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn1282Ser
CA051637
NM_000138.5:c.3845A>G