Canonical Allele Identifier: PA915959949
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 724608
ClinVar RCV Id: RCV000898550 RCV001176918 RCV001759665
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Lys2037Arg
CA056253
NM_000138.5:c.6110A>G