Canonical Allele Identifier: PA645404082
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406288
ClinVar RCV Id: RCV000468015 RCV000587764 RCV003401461
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys513Phe
CA16614674
NM_000138.5:c.1538G>T