Canonical Allele Identifier: PA356214
Gene: FBN1 HGNC NCBI
ClinVar RCV:
RCV001378775
ClinVar Variation:
221117
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2390Tyr
CA350431
NM_000138.5:c.7169G>A