Canonical Allele Identifier: PA916077489
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 363525
ClinVar RCV Id: RCV000328196 RCV000504368 RCV000930721 RCV003950289
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078872.3:p.Thr468Asn
CA4610542
NM_024596.5:c.1403C>A