Canonical Allele Identifier: PA304232
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200087
ClinVar RCV Id: RCV000663875 RCV000181570 RCV003352796 RCV003765116
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp2166Asn
CA016504
NM_000138.5:c.6496G>A