Canonical Allele Identifier: PA916077489
Gene: MCPH1 HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_078872.3:p.Thr468Asn
NM_024596.5:c.[1402dup;1404del]

NM_024596.5:c.1403C>A