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Canonical Allele Identifier: Get Identifier
Gene: EFHC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000360107.4:p.[Phe438_Phe440delinsLeuSer;Tyr442_Phe443del;Ala445del;Asp447_Ile451del;Glu453_Val456del;Asn458_Arg469del]
CA314473
ENST00000371068.9:c.1314del