Canonical Allele Identifier: PA1139677363
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly2546Arg
CA392325184
NM_000138.5:c.7636G>A
CA392325185
NM_000138.5:c.7636G>C