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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000325527.5:p.Tyr1004del
CA013641
ENST00000316623.9:c.3012C>G
CA392329038
ENST00000316623.9:c.3012C>A