Canonical Allele Identifier: PA645404225
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406267
ClinVar RCV Id: RCV000474956 RCV001380729
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys617Gly
CA16614446
NM_000138.5:c.1849T>G