Canonical Allele Identifier: PA645406038
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 437420
ClinVar RCV Id: RCV000504482
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp2206Asn
CA392334571
NM_000138.5:c.6616G>A