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Canonical Allele Identifier: Get Identifier
Gene: MCPH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308974.1:p.[Thr434_Asp438del;Thr440Gln;Phe442_Ser462del]
CA1760907289
NM_001322045.1:c.1300_1301insT