Canonical Allele Identifier: PA658800924
Gene: FBN1 HGNC NCBI
ClinVar RCV:
RCV000631987
ClinVar Variation:
527193
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Tyr2433Cys
CA392328543
NM_000138.5:c.7298A>G