Canonical Allele Identifier: PA645404726
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.His1041Gln
CA049905
NM_000138.5:c.3123C>A
CA10587837
NM_000138.5:c.3123C>G