Canonical Allele Identifier: PA3074690888
Gene: MCPH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078872.3:p.Thr682Ser
CA4610790
NM_024596.5:c.2045C>G
CA370215725
NM_024596.5:c.2044A>T