Canonical Allele Identifier: PA2741887498
Gene: FBN2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001990.2:p.His500Gln
CA360747972
NM_001999.4:c.1500T>G
CA360747974
NM_001999.4:c.1500T>A