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Canonical Allele Identifier: Get Identifier
Gene: EFHC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000490622.1:p.[Phe342_Phe344delinsLeuSer;Tyr346_Phe347del;Ala349del;Asp351_Ile355del;Glu357_Val360del;Asn362_Arg373del]
CA314473
ENST00000636379.1:c.1026del