Canonical Allele Identifier: PA353634
Gene: FBN1 HGNC NCBI
ClinVar RCV:
RCV000208087
ClinVar Variation:
222601
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys637Arg
CA353632
NM_000138.5:c.1909T>C