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Canonical Allele Identifier: Get Identifier
Gene: MCPH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000510001.1:p.[Thr466_Asp470del;Thr472Gln;Phe474_Ser494del]
CA1760907289
ENST00000685179.1:c.1396_1397insT