Canonical Allele Identifier: PA2825059498
Gene: FBN1 HGNC NCBI
ClinVar RCV:
RCV003809216
ClinVar Variation:
2948442
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu2169Lys
CA392335313
NM_000138.5:c.6505G>A