Canonical Allele Identifier: PA645464785
Gene: FBN2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.Met1108Leu
CA3395269
NM_001999.4:c.3322A>C
CA360761743
NM_001999.4:c.3322A>T