Canonical Allele Identifier: PA2573061520
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1329363
ClinVar RCV Id: RCV001799406 RCV003314695
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Lys1568Asn
CA392352933
NM_000138.5:c.4704A>C
CA392352934
NM_000138.5:c.4704A>T