Canonical Allele Identifier: PA304170
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200054
ClinVar RCV Id: RCV000181531 RCV000226053 RCV000765220 RCV000778032 RCV000586729 RCV004539701 RCV003996692
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Met1576Thr
CA015377
NM_000138.5:c.4727T>C