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Canonical Allele Identifier: Get Identifier
Gene: MCPH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000509054.1:p.[Thr468_Thr474del;Phe476_Gly488delinsGln;Gly490_Ser496del]
CA4610541
ENST00000689633.1:c.1402dup