Canonical Allele Identifier: PA645404963
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 263789
ClinVar RCV Id: RCV000632016 RCV001186050 RCV003105842
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Met1230Thr
CA051349
NM_000138.5:c.3689T>C