Canonical Allele Identifier: PA2827141519
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 909149
ClinVar RCV Id: RCV001160084 RCV001751293 RCV003928758 RCV002559533
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308974.2:p.Glu375Val
CA4610498
NM_001322045.2:c.1124A>T