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Canonical Allele Identifier: Get Identifier
Gene: EFHC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000489623.1:p.[Phe428_Phe430delinsLeuSer;Tyr432_Phe433del;Ala435del;Asp437_Ile441del;Glu443_Val446del;Asn448_Arg459del]
CA314473
ENST00000636702.1:c.1284del