Canonical Allele Identifier: PA645403671
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys100Tyr
CA10576993
NM_000138.5:c.299G>A
CA3055622084
NM_000138.5:c.299_300delinsAT