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Canonical Allele Identifier: Get Identifier
Gene: MCPH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000430768.1:p.Thr420Asn
ENST00000522905.1:c.[1258dup;1260del]

ENST00000522905.1:c.1259C>A