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Canonical Allele Identifier: Get Identifier
Gene: EFHC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000489921.1:p.[Phe330_Phe332delinsLeuSer;Tyr334_Phe335del;Ala337del;Asp339_Ile343del;Glu345_Val348del;Asn350_Arg361del]
CA314473
ENST00000635984.1:c.990del