This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: EFHC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000444521.1:p.[Phe419_Phe421delinsLeuSer;Tyr423_Phe424del;Ala426del;Asp428_Ile432del;Glu434_Val437del;Asn439_Arg450del]
CA314473
ENST00000538167.2:c.1257del