Canonical Allele Identifier: PA2827140604
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1409670
ClinVar RCV Id: RCV001939890 RCV002478363
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308971.2:p.Arg493Cys
CA4610567
NM_001322042.2:c.1477C>T