Canonical Allele Identifier: PA658693087
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495645
ClinVar RCV Id: RCV000590273 RCV000793151
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn2461Lys
CA058485
NM_000138.5:c.7383C>G
CA392327862
NM_000138.5:c.7383C>A